SNP Links for Protein (Select 26051273) - SNP

Select item 14901036421.

rs1490103642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150947465 (GRCh38)
7:150644553 (GRCh37)
Canonical SPDI:: NC_000007.14:150947464:C:T
Gene:: KCNH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000007.14:g.150947465C>T, NC_000007.13:g.150644553C>T, NG_008916.1:g.35462G>A, NM_000238.4:c.3015G>A, NM_000238.3:c.3015G>A, NM_172057.3:c.1995G>A, NM_172057.2:c.1995G>A, NR_176254.1:n.3236G>A, NM_001406753.1:c.2727G>A, NR_176255.1:n.2109G>A, XM_011516185.3:c.2715G>A, XM_011516185.2:c.2715G>A, XM_011516185.1:c.2715G>A, XM_017012195.2:c.2865G>A, XM_017012195.1:c.2865G>A, XM_017012196.2:c.2838G>A, XM_017012196.1:c.2838G>A, XM_047420348.1:c.3093G>A, XM_047420349.1:c.*95G>A

Select item 14893834222.

rs1489383422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150952449 (GRCh38)
7:150649537 (GRCh37)
Canonical SPDI:: NC_000007.14:150952448:G:A
Gene:: KCNH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150952449G>A, NC_000007.13:g.150649537G>A, NG_008916.1:g.30478C>T, NM_000238.4:c.1533C>T, NM_000238.3:c.1533C>T, NM_172056.3:c.1533C>T, NM_172056.2:c.1533C>T, NM_172057.3:c.513C>T, NM_172057.2:c.513C>T, NM_001204798.2:c.513C>T, NM_001204798.1:c.513C>T, NR_176254.1:n.1941C>T, NM_001406753.1:c.1245C>T, NM_001406756.1:c.1245C>T, NM_001406755.1:c.1356C>T, NM_001406757.1:c.1233C>T, NR_176255.1:n.814C>T, XM_011516185.3:c.1233C>T, XM_011516185.2:c.1233C>T, XM_011516185.1:c.1233C>T, XM_017012195.2:c.1383C>T, XM_017012195.1:c.1383C>T, XM_017012196.2:c.1356C>T, XM_017012196.1:c.1356C>T, XM_047420348.1:c.1611C>T, XM_047420349.1:c.1611C>T

Select item 14869376823.

rs1486937682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150946981 (GRCh38)
7:150644069 (GRCh37)
Canonical SPDI:: NC_000007.14:150946980:G:A
Gene:: KCNH2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150946981G>A, NC_000007.13:g.150644069G>A, NG_008916.1:g.35946C>T, NM_000238.4:c.3226C>T, NM_000238.3:c.3226C>T, NM_172057.3:c.2206C>T, NM_172057.2:c.2206C>T, NR_176254.1:n.3447C>T, NM_001406753.1:c.2938C>T, NR_176255.1:n.2320C>T, XM_011516185.3:c.2926C>T, XM_011516185.2:c.2926C>T, XM_011516185.1:c.2926C>T, XM_017012195.2:c.3076C>T, XM_017012195.1:c.3076C>T, XM_017012196.2:c.3049C>T, XM_017012196.1:c.3049C>T, XM_047420348.1:c.3304C>T, NP_000229.1:p.Pro1076Ser, NP_742054.1:p.Pro736Ser, XP_011514487.1:p.Pro976Ser, XP_016867684.1:p.Pro1026Ser, XP_016867685.1:p.Pro1017Ser, XP_047276304.1:p.Pro1102Ser

Select item 14843703624.

rs1484370362 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:150951811 (GRCh38)
7:150648900 (GRCh37)
Canonical SPDI:: NC_000007.14:150951811:C:CC
Gene:: KCNH2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150951812dup, NC_000007.13:g.150648900dup, NG_008916.1:g.31115dup, NM_000238.4:c.1581dup, NM_000238.3:c.1581dup, NM_172056.3:c.1581dup, NM_172056.2:c.1581dup, NM_172057.3:c.561dup, NM_172057.2:c.561dup, NM_001204798.2:c.561dup, NM_001204798.1:c.561dup, NR_176254.1:n.1989dup, NM_001406753.1:c.1293dup, NM_001406756.1:c.1293dup, NM_001406755.1:c.1404dup, NM_001406757.1:c.1281dup, NR_176255.1:n.862dup, XM_011516185.3:c.1281dup, XM_011516185.2:c.1281dup, XM_011516185.1:c.1281dup, XM_017012195.2:c.1431dup, XM_017012195.1:c.1431dup, XM_017012196.2:c.1404dup, XM_017012196.1:c.1404dup, XM_047420348.1:c.1659dup, XM_047420349.1:c.1659dup, NP_000229.1:p.Arg528fs, NP_742053.1:p.Arg528fs, NP_742054.1:p.Arg188fs, NP_001191727.1:p.Arg188fs, XP_011514487.1:p.Arg428fs, XP_016867684.1:p.Arg478fs, XP_016867685.1:p.Arg469fs, XP_047276304.1:p.Arg554fs, XP_047276305.1:p.Arg554fs

Select item 14840122845.

rs1484012284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:150946917 (GRCh38)
7:150644005 (GRCh37)
Canonical SPDI:: NC_000007.14:150946916:A:G
Gene:: KCNH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.150946917A>G, NC_000007.13:g.150644005A>G, NG_008916.1:g.36010T>C, NM_000238.4:c.3290T>C, NM_000238.3:c.3290T>C, NM_172057.3:c.2270T>C, NM_172057.2:c.2270T>C, NR_176254.1:n.3511T>C, NM_001406753.1:c.3002T>C, NR_176255.1:n.2384T>C, XM_011516185.3:c.2990T>C, XM_011516185.2:c.2990T>C, XM_011516185.1:c.2990T>C, XM_017012195.2:c.3140T>C, XM_017012195.1:c.3140T>C, XM_017012196.2:c.3113T>C, XM_017012196.1:c.3113T>C, XM_047420348.1:c.3368T>C, NP_000229.1:p.Val1097Ala, NP_742054.1:p.Val757Ala, XP_011514487.1:p.Val997Ala, XP_016867684.1:p.Val1047Ala, XP_016867685.1:p.Val1038Ala, XP_047276304.1:p.Val1123Ala

Select item 14805546296.

rs1480554629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:150947875 (GRCh38)
7:150644963 (GRCh37)
Canonical SPDI:: NC_000007.14:150947874:G:A,NC_000007.14:150947874:G:C,NC_000007.14:150947874:G:T
Gene:: KCNH2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000047/6 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.150947875G>A, NC_000007.14:g.150947875G>C, NC_000007.14:g.150947875G>T, NC_000007.13:g.150644963G>A, NC_000007.13:g.150644963G>C, NC_000007.13:g.150644963G>T, NG_008916.1:g.35052C>T, NG_008916.1:g.35052C>G, NG_008916.1:g.35052C>A, NM_000238.4:c.2696C>T, NM_000238.4:c.2696C>G, NM_000238.4:c.2696C>A, NM_000238.3:c.2696C>T, NM_000238.3:c.2696C>G, NM_000238.3:c.2696C>A, NM_172057.3:c.1676C>T, NM_172057.3:c.1676C>G, NM_172057.3:c.1676C>A, NM_172057.2:c.1676C>T, NM_172057.2:c.1676C>G, NM_172057.2:c.1676C>A, NM_001406753.1:c.2408C>T, NM_001406753.1:c.2408C>G, NM_001406753.1:c.2408C>A, XM_011516185.3:c.2396C>T, XM_011516185.3:c.2396C>G, XM_011516185.3:c.2396C>A, XM_011516185.2:c.2396C>T, XM_011516185.2:c.2396C>G, XM_011516185.2:c.2396C>A, XM_011516185.1:c.2396C>T, XM_011516185.1:c.2396C>G, XM_011516185.1:c.2396C>A, XM_017012195.2:c.2546C>T, XM_017012195.2:c.2546C>G, XM_017012195.2:c.2546C>A, XM_017012195.1:c.2546C>T, XM_017012195.1:c.2546C>G, XM_017012195.1:c.2546C>A, XM_017012196.2:c.2519C>T, XM_017012196.2:c.2519C>G, XM_017012196.2:c.2519C>A, XM_017012196.1:c.2519C>T, XM_017012196.1:c.2519C>G, XM_017012196.1:c.2519C>A, XM_047420348.1:c.2774C>T, XM_047420348.1:c.2774C>G, XM_047420348.1:c.2774C>A, NP_000229.1:p.Thr899Met, NP_000229.1:p.Thr899Arg, NP_000229.1:p.Thr899Lys, NP_742054.1:p.Thr559Met, NP_742054.1:p.Thr559Arg, NP_742054.1:p.Thr559Lys, XP_011514487.1:p.Thr799Met, XP_011514487.1:p.Thr799Arg, XP_011514487.1:p.Thr799Lys, XP_016867684.1:p.Thr849Met, XP_016867684.1:p.Thr849Arg, XP_016867684.1:p.Thr849Lys, XP_016867685.1:p.Thr840Met, XP_016867685.1:p.Thr840Arg, XP_016867685.1:p.Thr840Lys, XP_047276304.1:p.Thr925Met, XP_047276304.1:p.Thr925Arg, XP_047276304.1:p.Thr925Lys

Select item 14798912167.

rs1479891216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150947420 (GRCh38)
7:150644508 (GRCh37)
Canonical SPDI:: NC_000007.14:150947419:G:A
Gene:: KCNH2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150947420G>A, NC_000007.13:g.150644508G>A, NG_008916.1:g.35507C>T, NM_000238.4:c.3060C>T, NM_000238.3:c.3060C>T, NM_172057.3:c.2040C>T, NM_172057.2:c.2040C>T, NR_176254.1:n.3281C>T, NM_001406753.1:c.2772C>T, NR_176255.1:n.2154C>T, XM_011516185.3:c.2760C>T, XM_011516185.2:c.2760C>T, XM_011516185.1:c.2760C>T, XM_017012195.2:c.2910C>T, XM_017012195.1:c.2910C>T, XM_017012196.2:c.2883C>T, XM_017012196.1:c.2883C>T, XM_047420348.1:c.3138C>T

Select item 14795723428.

rs1479572342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:150947629 (GRCh38)
7:150644717 (GRCh37)
Canonical SPDI:: NC_000007.14:150947628:C:G,NC_000007.14:150947628:C:T
Gene:: KCNH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150947629C>G, NC_000007.14:g.150947629C>T, NC_000007.13:g.150644717C>G, NC_000007.13:g.150644717C>T, NG_008916.1:g.35298G>C, NG_008916.1:g.35298G>A, NM_000238.4:c.2942G>C, NM_000238.4:c.2942G>A, NM_000238.3:c.2942G>C, NM_000238.3:c.2942G>A, NM_172057.3:c.1922G>C, NM_172057.3:c.1922G>A, NM_172057.2:c.1922G>C, NM_172057.2:c.1922G>A, NR_176254.1:n.3163G>C, NR_176254.1:n.3163G>A, NM_001406753.1:c.2654G>C, NM_001406753.1:c.2654G>A, NR_176255.1:n.2036G>C, NR_176255.1:n.2036G>A, XM_011516185.3:c.2642G>C, XM_011516185.3:c.2642G>A, XM_011516185.2:c.2642G>C, XM_011516185.2:c.2642G>A, XM_011516185.1:c.2642G>C, XM_011516185.1:c.2642G>A, XM_017012195.2:c.2792G>C, XM_017012195.2:c.2792G>A, XM_017012195.1:c.2792G>C, XM_017012195.1:c.2792G>A, XM_017012196.2:c.2765G>C, XM_017012196.2:c.2765G>A, XM_017012196.1:c.2765G>C, XM_017012196.1:c.2765G>A, XM_047420348.1:c.3020G>C, XM_047420348.1:c.3020G>A, XM_047420349.1:c.*22G>C, XM_047420349.1:c.*22G>A, NP_000229.1:p.Ser981Thr, NP_000229.1:p.Ser981Asn, NP_742054.1:p.Ser641Thr, NP_742054.1:p.Ser641Asn, XP_011514487.1:p.Ser881Thr, XP_011514487.1:p.Ser881Asn, XP_016867684.1:p.Ser931Thr, XP_016867684.1:p.Ser931Asn, XP_016867685.1:p.Ser922Thr, XP_016867685.1:p.Ser922Asn, XP_047276304.1:p.Ser1007Thr, XP_047276304.1:p.Ser1007Asn

Select item 14781562189.

rs1478156218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:150947375 (GRCh38)
7:150644463 (GRCh37)
Canonical SPDI:: NC_000007.14:150947374:C:A,NC_000007.14:150947374:C:T
Gene:: KCNH2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150947375C>A, NC_000007.14:g.150947375C>T, NC_000007.13:g.150644463C>A, NC_000007.13:g.150644463C>T, NG_008916.1:g.35552G>T, NG_008916.1:g.35552G>A, NM_000238.4:c.3105G>T, NM_000238.4:c.3105G>A, NM_000238.3:c.3105G>T, NM_000238.3:c.3105G>A, NM_172057.3:c.2085G>T, NM_172057.3:c.2085G>A, NM_172057.2:c.2085G>T, NM_172057.2:c.2085G>A, NR_176254.1:n.3326G>T, NR_176254.1:n.3326G>A, NM_001406753.1:c.2817G>T, NM_001406753.1:c.2817G>A, NR_176255.1:n.2199G>T, NR_176255.1:n.2199G>A, XM_011516185.3:c.2805G>T, XM_011516185.3:c.2805G>A, XM_011516185.2:c.2805G>T, XM_011516185.2:c.2805G>A, XM_011516185.1:c.2805G>T, XM_011516185.1:c.2805G>A, XM_017012195.2:c.2955G>T, XM_017012195.2:c.2955G>A, XM_017012195.1:c.2955G>T, XM_017012195.1:c.2955G>A, XM_017012196.2:c.2928G>T, XM_017012196.2:c.2928G>A, XM_017012196.1:c.2928G>T, XM_017012196.1:c.2928G>A, XM_047420348.1:c.3183G>T, XM_047420348.1:c.3183G>A

Select item 147753041010.

rs1477530410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150945470 (GRCh38)
7:150642558 (GRCh37)
Canonical SPDI:: NC_000007.14:150945469:T:C
Gene:: KCNH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.150945470T>C, NC_000007.13:g.150642558T>C, NG_008916.1:g.37457A>G, NM_000238.4:c.3375A>G, NM_000238.3:c.3375A>G, NM_172057.3:c.2355A>G, NM_172057.2:c.2355A>G, NR_176254.1:n.3596A>G, NM_001406753.1:c.3087A>G, NR_176255.1:n.2469A>G, XM_011516185.3:c.3075A>G, XM_011516185.2:c.3075A>G, XM_011516185.1:c.3075A>G, XM_017012195.2:c.3225A>G, XM_017012195.1:c.3225A>G, XM_017012196.2:c.3198A>G, XM_017012196.1:c.3198A>G, XM_047420348.1:c.3453A>G

Select item 147681445111.

rs1476814451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150950357 (GRCh38)
7:150647445 (GRCh37)
Canonical SPDI:: NC_000007.14:150950356:G:A
Gene:: KCNH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.150950357G>A, NC_000007.13:g.150647445G>A, NG_008916.1:g.32570C>T, NM_000238.4:c.2209C>T, NM_000238.3:c.2209C>T, NM_172056.3:c.2209C>T, NM_172056.2:c.2209C>T, NM_172057.3:c.1189C>T, NM_172057.2:c.1189C>T, NM_001204798.2:c.1189C>T, NM_001204798.1:c.1189C>T, NR_176254.1:n.2617C>T, NM_001406753.1:c.1921C>T, NM_001406756.1:c.1921C>T, NM_001406755.1:c.2032C>T, NM_001406757.1:c.1909C>T, NR_176255.1:n.1490C>T, XM_011516185.3:c.1909C>T, XM_011516185.2:c.1909C>T, XM_011516185.1:c.1909C>T, XM_017012195.2:c.2059C>T, XM_017012195.1:c.2059C>T, XM_017012196.2:c.2032C>T, XM_017012196.1:c.2032C>T, XM_047420348.1:c.2287C>T, XM_047420349.1:c.2287C>T

Select item 147480657412.

rs1474806574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:150955432 (GRCh38)
7:150652520 (GRCh37)
Canonical SPDI:: NC_000007.14:150955431:C:A
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.150955432C>A, NC_000007.13:g.150652520C>A, NG_008916.1:g.27495G>T, NM_172057.3:c.72G>T, NM_172057.2:c.72G>T, NM_001204798.2:c.72G>T, NM_001204798.1:c.72G>T, NR_176255.1:n.373G>T, NP_742054.1:p.Arg24Ser, NP_001191727.1:p.Arg24Ser

Select item 147381277413.

rs1473812774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150951753 (GRCh38)
7:150648841 (GRCh37)
Canonical SPDI:: NC_000007.14:150951752:G:A
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.150951753G>A, NC_000007.13:g.150648841G>A, NG_008916.1:g.31174C>T, NM_000238.4:c.1640C>T, NM_000238.3:c.1640C>T, NM_172056.3:c.1640C>T, NM_172056.2:c.1640C>T, NM_172057.3:c.620C>T, NM_172057.2:c.620C>T, NM_001204798.2:c.620C>T, NM_001204798.1:c.620C>T, NR_176254.1:n.2048C>T, NM_001406753.1:c.1352C>T, NM_001406756.1:c.1352C>T, NM_001406755.1:c.1463C>T, NM_001406757.1:c.1340C>T, NR_176255.1:n.921C>T, XM_011516185.3:c.1340C>T, XM_011516185.2:c.1340C>T, XM_011516185.1:c.1340C>T, XM_017012195.2:c.1490C>T, XM_017012195.1:c.1490C>T, XM_017012196.2:c.1463C>T, XM_017012196.1:c.1463C>T, XM_047420348.1:c.1718C>T, XM_047420349.1:c.1718C>T, NP_000229.1:p.Ala547Val, NP_742053.1:p.Ala547Val, NP_742054.1:p.Ala207Val, NP_001191727.1:p.Ala207Val, XP_011514487.1:p.Ala447Val, XP_016867684.1:p.Ala497Val, XP_016867685.1:p.Ala488Val, XP_047276304.1:p.Ala573Val, XP_047276305.1:p.Ala573Val

Select item 147160398014.

rs1471603980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150951105 (GRCh38)
7:150648193 (GRCh37)
Canonical SPDI:: NC_000007.14:150951104:C:T
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.150951105C>T, NC_000007.13:g.150648193C>T, NG_008916.1:g.31822G>A, NM_000238.4:c.1961G>A, NM_000238.3:c.1961G>A, NM_172056.3:c.1961G>A, NM_172056.2:c.1961G>A, NM_172057.3:c.941G>A, NM_172057.2:c.941G>A, NM_001204798.2:c.941G>A, NM_001204798.1:c.941G>A, NR_176254.1:n.2369G>A, NM_001406753.1:c.1673G>A, NM_001406756.1:c.1673G>A, NM_001406755.1:c.1784G>A, NM_001406757.1:c.1661G>A, NR_176255.1:n.1242G>A, XM_011516185.3:c.1661G>A, XM_011516185.2:c.1661G>A, XM_011516185.1:c.1661G>A, XM_017012195.2:c.1811G>A, XM_017012195.1:c.1811G>A, XM_017012196.2:c.1784G>A, XM_017012196.1:c.1784G>A, XM_047420348.1:c.2039G>A, XM_047420349.1:c.2039G>A, NP_000229.1:p.Ser654Asn, NP_742053.1:p.Ser654Asn, NP_742054.1:p.Ser314Asn, NP_001191727.1:p.Ser314Asn, XP_011514487.1:p.Ser554Asn, XP_016867684.1:p.Ser604Asn, XP_016867685.1:p.Ser595Asn, XP_047276304.1:p.Ser680Asn, XP_047276305.1:p.Ser680Asn

Select item 147117994915.

rs1471179949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:150947697 (GRCh38)
7:150644785 (GRCh37)
Canonical SPDI:: NC_000007.14:150947696:G:T
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150947697G>T, NC_000007.13:g.150644785G>T, NG_008916.1:g.35230C>A, NM_000238.4:c.2874C>A, NM_000238.3:c.2874C>A, NM_172057.3:c.1854C>A, NM_172057.2:c.1854C>A, NM_001406753.1:c.2586C>A, XM_011516185.3:c.2574C>A, XM_011516185.2:c.2574C>A, XM_011516185.1:c.2574C>A, XM_017012195.2:c.2724C>A, XM_017012195.1:c.2724C>A, XM_017012196.2:c.2697C>A, XM_017012196.1:c.2697C>A, XM_047420348.1:c.2952C>A, NP_000229.1:p.Phe958Leu, NP_742054.1:p.Phe618Leu, XP_011514487.1:p.Phe858Leu, XP_016867684.1:p.Phe908Leu, XP_016867685.1:p.Phe899Leu, XP_047276304.1:p.Phe984Leu

Select item 146956492516.

rs1469564925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150947741 (GRCh38)
7:150644829 (GRCh37)
Canonical SPDI:: NC_000007.14:150947740:C:T
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000007.14:g.150947741C>T, NC_000007.13:g.150644829C>T, NG_008916.1:g.35186G>A, NM_000238.4:c.2830G>A, NM_000238.3:c.2830G>A, NM_172057.3:c.1810G>A, NM_172057.2:c.1810G>A, NM_001406753.1:c.2542G>A, XM_011516185.3:c.2530G>A, XM_011516185.2:c.2530G>A, XM_011516185.1:c.2530G>A, XM_017012195.2:c.2680G>A, XM_017012195.1:c.2680G>A, XM_017012196.2:c.2653G>A, XM_017012196.1:c.2653G>A, XM_047420348.1:c.2908G>A, NP_000229.1:p.Glu944Lys, NP_742054.1:p.Glu604Lys, XP_011514487.1:p.Glu844Lys, XP_016867684.1:p.Glu894Lys, XP_016867685.1:p.Glu885Lys, XP_047276304.1:p.Glu970Lys

Select item 146864040217.

rs1468640402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:150955466 (GRCh38)
7:150652554 (GRCh37)
Canonical SPDI:: NC_000007.14:150955465:G:A,NC_000007.14:150955465:G:T
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150955466G>A, NC_000007.14:g.150955466G>T, NC_000007.13:g.150652554G>A, NC_000007.13:g.150652554G>T, NG_008916.1:g.27461C>T, NG_008916.1:g.27461C>A, NM_172057.3:c.38C>T, NM_172057.3:c.38C>A, NM_172057.2:c.38C>T, NM_172057.2:c.38C>A, NM_001204798.2:c.38C>T, NM_001204798.2:c.38C>A, NM_001204798.1:c.38C>T, NM_001204798.1:c.38C>A, NR_176255.1:n.339C>T, NR_176255.1:n.339C>A, NP_742054.1:p.Ala13Val, NP_742054.1:p.Ala13Asp, NP_001191727.1:p.Ala13Val, NP_001191727.1:p.Ala13Asp

Select item 146394265918.

rs1463942659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:150950289 (GRCh38)
7:150647377 (GRCh37)
Canonical SPDI:: NC_000007.14:150950288:C:A
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150950289C>A, NC_000007.13:g.150647377C>A, NG_008916.1:g.32638G>T, NM_000238.4:c.2277G>T, NM_000238.3:c.2277G>T, NM_172056.3:c.2277G>T, NM_172056.2:c.2277G>T, NM_172057.3:c.1257G>T, NM_172057.2:c.1257G>T, NM_001204798.2:c.1257G>T, NM_001204798.1:c.1257G>T, NR_176254.1:n.2685G>T, NM_001406753.1:c.1989G>T, NM_001406756.1:c.1989G>T, NM_001406755.1:c.2100G>T, NM_001406757.1:c.1977G>T, NR_176255.1:n.1558G>T, XM_011516185.3:c.1977G>T, XM_011516185.2:c.1977G>T, XM_011516185.1:c.1977G>T, XM_017012195.2:c.2127G>T, XM_017012195.1:c.2127G>T, XM_017012196.2:c.2100G>T, XM_017012196.1:c.2100G>T, XM_047420348.1:c.2355G>T, XM_047420349.1:c.2355G>T, NP_000229.1:p.Lys759Asn, NP_742053.1:p.Lys759Asn, NP_742054.1:p.Lys419Asn, NP_001191727.1:p.Lys419Asn, XP_011514487.1:p.Lys659Asn, XP_016867684.1:p.Lys709Asn, XP_016867685.1:p.Lys700Asn, XP_047276304.1:p.Lys785Asn, XP_047276305.1:p.Lys785Asn

Select item 146304100419.

rs1463041004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:150948502 (GRCh38)
7:150645590 (GRCh37)
Canonical SPDI:: NC_000007.14:150948501:C:A,NC_000007.14:150948501:C:T
Gene:: KCNH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150948502C>A, NC_000007.14:g.150948502C>T, NC_000007.13:g.150645590C>A, NC_000007.13:g.150645590C>T, NG_008916.1:g.34425G>T, NG_008916.1:g.34425G>A, NM_000238.4:c.2634G>T, NM_000238.4:c.2634G>A, NM_000238.3:c.2634G>T, NM_000238.3:c.2634G>A, NM_172057.3:c.1614G>T, NM_172057.3:c.1614G>A, NM_172057.2:c.1614G>T, NM_172057.2:c.1614G>A, NR_176254.1:n.3042G>T, NR_176254.1:n.3042G>A, NM_001406753.1:c.2346G>T, NM_001406753.1:c.2346G>A, NR_176255.1:n.1915G>T, NR_176255.1:n.1915G>A, XM_011516185.3:c.2334G>T, XM_011516185.3:c.2334G>A, XM_011516185.2:c.2334G>T, XM_011516185.2:c.2334G>A, XM_011516185.1:c.2334G>T, XM_011516185.1:c.2334G>A, XM_017012195.2:c.2484G>T, XM_017012195.2:c.2484G>A, XM_017012195.1:c.2484G>T, XM_017012195.1:c.2484G>A, XM_017012196.2:c.2457G>T, XM_017012196.2:c.2457G>A, XM_017012196.1:c.2457G>T, XM_017012196.1:c.2457G>A, XM_047420348.1:c.2712G>T, XM_047420348.1:c.2712G>A, XM_047420349.1:c.2712G>T, XM_047420349.1:c.2712G>A, NP_000229.1:p.Glu878Asp, NP_742054.1:p.Glu538Asp, XP_011514487.1:p.Glu778Asp, XP_016867684.1:p.Glu828Asp, XP_016867685.1:p.Glu819Asp, XP_047276304.1:p.Glu904Asp, XP_047276305.1:p.Glu904Asp

Select item 146089016920.

rs1460890169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150947365 (GRCh38)
7:150644453 (GRCh37)
Canonical SPDI:: NC_000007.14:150947364:C:T
Gene:: KCNH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.150947365C>T, NC_000007.13:g.150644453C>T, NG_008916.1:g.35562G>A, NM_000238.4:c.3115G>A, NM_000238.3:c.3115G>A, NM_172057.3:c.2095G>A, NM_172057.2:c.2095G>A, NR_176254.1:n.3336G>A, NM_001406753.1:c.2827G>A, NR_176255.1:n.2209G>A, XM_011516185.3:c.2815G>A, XM_011516185.2:c.2815G>A, XM_011516185.1:c.2815G>A, XM_017012195.2:c.2965G>A, XM_017012195.1:c.2965G>A, XM_017012196.2:c.2938G>A, XM_017012196.1:c.2938G>A, XM_047420348.1:c.3193G>A, NP_000229.1:p.Glu1039Lys, NP_742054.1:p.Glu699Lys, XP_011514487.1:p.Glu939Lys, XP_016867684.1:p.Glu989Lys, XP_016867685.1:p.Glu980Lys, XP_047276304.1:p.Glu1065Lys

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