SNP Links for Protein (Select 768004155) - SNP

Select item 14909309191.

rs1490930919 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTCT>- [Show Flanks]
Chromosome:: 19:7899344 (GRCh38)
19:7964229 (GRCh37)
Canonical SPDI:: NC_000019.10:7899341:CTGGTCT:CT
Gene:: LRRC8E (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7899344_7899348del, NC_000019.9:g.7964229_7964233del, NG_029438.2:g.465_469del, NG_050684.1:g.15840_15844del, NM_025061.6:c.822_826del, NM_025061.5:c.822_826del, NM_025061.4:c.822_826del, NM_001268284.3:c.822_826del, NM_001268284.2:c.822_826del, NM_001268284.1:c.822_826del, NM_001268285.3:c.435_439del, NM_001268285.2:c.435_439del, NM_001268285.1:c.435_439del, XM_011528319.3:c.822_826del, XM_011528319.2:c.822_826del, XM_011528319.1:c.822_826del, XM_047439461.1:c.822_826del, NP_079337.2:p.Val275fs, NP_001255213.1:p.Val275fs, NP_001255214.1:p.Val146fs, XP_011526621.1:p.Val275fs, XP_047295417.1:p.Val275fs

Select item 14897377932.

rs1489737793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7899895 (GRCh38)
19:7964780 (GRCh37)
Canonical SPDI:: NC_000019.10:7899894:A:G
Gene:: LRRC8E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.7899895A>G, NC_000019.9:g.7964780A>G, NG_029438.2:g.1016A>G, NG_050684.1:g.16391A>G, NM_025061.6:c.1373A>G, NM_025061.5:c.1373A>G, NM_025061.4:c.1373A>G, NM_001268284.3:c.1373A>G, NM_001268284.2:c.1373A>G, NM_001268284.1:c.1373A>G, NM_001268285.3:c.986A>G, NM_001268285.2:c.986A>G, NM_001268285.1:c.986A>G, XM_011528319.3:c.1373A>G, XM_011528319.2:c.1373A>G, XM_011528319.1:c.1373A>G, XM_047439461.1:c.1373A>G, NP_079337.2:p.Gln458Arg, NP_001255213.1:p.Gln458Arg, NP_001255214.1:p.Gln329Arg, XP_011526621.1:p.Gln458Arg, XP_047295417.1:p.Gln458Arg

Select item 14873094733.

rs1487309473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7900496 (GRCh38)
19:7965381 (GRCh37)
Canonical SPDI:: NC_000019.10:7900495:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7900496C>T, NC_000019.9:g.7965381C>T, NG_029438.2:g.1617C>T, NG_050684.1:g.16992C>T, NM_025061.6:c.1974C>T, NM_025061.5:c.1974C>T, NM_025061.4:c.1974C>T, NM_001268284.3:c.1974C>T, NM_001268284.2:c.1974C>T, NM_001268284.1:c.1974C>T, NM_001268285.3:c.1587C>T, NM_001268285.2:c.1587C>T, NM_001268285.1:c.1587C>T, XM_011528319.3:c.1974C>T, XM_011528319.2:c.1974C>T, XM_011528319.1:c.1974C>T, XM_047439461.1:c.1974C>T

Select item 14865241274.

rs1486524127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7900665 (GRCh38)
19:7965550 (GRCh37)
Canonical SPDI:: NC_000019.10:7900664:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7900665C>T, NC_000019.9:g.7965550C>T, NG_029438.2:g.1786C>T, NG_050684.1:g.17161C>T, NM_025061.6:c.2143C>T, NM_025061.5:c.2143C>T, NM_025061.4:c.2143C>T, NM_001268284.3:c.2143C>T, NM_001268284.2:c.2143C>T, NM_001268284.1:c.2143C>T, NM_001268285.3:c.1756C>T, NM_001268285.2:c.1756C>T, NM_001268285.1:c.1756C>T, XM_011528319.3:c.2143C>T, XM_011528319.2:c.2143C>T, XM_011528319.1:c.2143C>T, XM_047439461.1:c.2143C>T, NP_079337.2:p.Pro715Ser, NP_001255213.1:p.Pro715Ser, NP_001255214.1:p.Pro586Ser, XP_011526621.1:p.Pro715Ser, XP_047295417.1:p.Pro715Ser

Select item 14858265555.

rs1485826555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:7898834 (GRCh38)
19:7963719 (GRCh37)
Canonical SPDI:: NC_000019.10:7898833:G:T
Gene:: LRRC8E (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.7898834G>T, NC_000019.9:g.7963719G>T, NG_050684.1:g.15330G>T, NM_025061.6:c.312G>T, NM_025061.5:c.312G>T, NM_025061.4:c.312G>T, NM_001268284.3:c.312G>T, NM_001268284.2:c.312G>T, NM_001268284.1:c.312G>T, NM_001268285.3:c.-76G>T, NM_001268285.2:c.-76G>T, NM_001268285.1:c.-76G>T, XM_011528319.3:c.312G>T, XM_011528319.2:c.312G>T, XM_011528319.1:c.312G>T, XM_047439461.1:c.312G>T, NP_079337.2:p.Gln104His, NP_001255213.1:p.Gln104His, XP_011526621.1:p.Gln104His, XP_047295417.1:p.Gln104His

Select item 14838119266.

rs1483811926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7898798 (GRCh38)
19:7963683 (GRCh37)
Canonical SPDI:: NC_000019.10:7898797:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7898798C>T, NC_000019.9:g.7963683C>T, NG_050684.1:g.15294C>T, NM_025061.6:c.276C>T, NM_025061.5:c.276C>T, NM_025061.4:c.276C>T, NM_001268284.3:c.276C>T, NM_001268284.2:c.276C>T, NM_001268284.1:c.276C>T, NM_001268285.3:c.-112C>T, NM_001268285.2:c.-112C>T, NM_001268285.1:c.-112C>T, XM_011528319.3:c.276C>T, XM_011528319.2:c.276C>T, XM_011528319.1:c.276C>T, XM_047439461.1:c.276C>T

Select item 14832379857.

rs1483237985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7900056 (GRCh38)
19:7964941 (GRCh37)
Canonical SPDI:: NC_000019.10:7900055:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.7900056C>T, NC_000019.9:g.7964941C>T, NG_029438.2:g.1177C>T, NG_050684.1:g.16552C>T, NM_025061.6:c.1534C>T, NM_025061.5:c.1534C>T, NM_025061.4:c.1534C>T, NM_001268284.3:c.1534C>T, NM_001268284.2:c.1534C>T, NM_001268284.1:c.1534C>T, NM_001268285.3:c.1147C>T, NM_001268285.2:c.1147C>T, NM_001268285.1:c.1147C>T, XM_011528319.3:c.1534C>T, XM_011528319.2:c.1534C>T, XM_011528319.1:c.1534C>T, XM_047439461.1:c.1534C>T

Select item 14822482758.

rs1482248275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:7899849 (GRCh38)
19:7964734 (GRCh37)
Canonical SPDI:: NC_000019.10:7899848:A:C,NC_000019.10:7899848:A:G
Gene:: LRRC8E (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.7899849A>C, NC_000019.10:g.7899849A>G, NC_000019.9:g.7964734A>C, NC_000019.9:g.7964734A>G, NG_029438.2:g.970A>C, NG_029438.2:g.970A>G, NG_050684.1:g.16345A>C, NG_050684.1:g.16345A>G, NM_025061.6:c.1327A>C, NM_025061.6:c.1327A>G, NM_025061.5:c.1327A>C, NM_025061.5:c.1327A>G, NM_025061.4:c.1327A>C, NM_025061.4:c.1327A>G, NM_001268284.3:c.1327A>C, NM_001268284.3:c.1327A>G, NM_001268284.2:c.1327A>C, NM_001268284.2:c.1327A>G, NM_001268284.1:c.1327A>C, NM_001268284.1:c.1327A>G, NM_001268285.3:c.940A>C, NM_001268285.3:c.940A>G, NM_001268285.2:c.940A>C, NM_001268285.2:c.940A>G, NM_001268285.1:c.940A>C, NM_001268285.1:c.940A>G, XM_011528319.3:c.1327A>C, XM_011528319.3:c.1327A>G, XM_011528319.2:c.1327A>C, XM_011528319.2:c.1327A>G, XM_011528319.1:c.1327A>C, XM_011528319.1:c.1327A>G, XM_047439461.1:c.1327A>C, XM_047439461.1:c.1327A>G, NP_079337.2:p.Arg443Gly, NP_001255213.1:p.Arg443Gly, NP_001255214.1:p.Arg314Gly, XP_011526621.1:p.Arg443Gly, XP_047295417.1:p.Arg443Gly

Select item 14803132689.

rs1480313268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7900720 (GRCh38)
19:7965605 (GRCh37)
Canonical SPDI:: NC_000019.10:7900719:A:G
Gene:: LRRC8E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7900720A>G, NC_000019.9:g.7965605A>G, NG_029438.2:g.1841A>G, NG_050684.1:g.17216A>G, NM_025061.6:c.2198A>G, NM_025061.5:c.2198A>G, NM_025061.4:c.2198A>G, NM_001268284.3:c.2198A>G, NM_001268284.2:c.2198A>G, NM_001268284.1:c.2198A>G, NM_001268285.3:c.1811A>G, NM_001268285.2:c.1811A>G, NM_001268285.1:c.1811A>G, XM_011528319.3:c.2198A>G, XM_011528319.2:c.2198A>G, XM_011528319.1:c.2198A>G, XM_047439461.1:c.2198A>G, NP_079337.2:p.Gln733Arg, NP_001255213.1:p.Gln733Arg, NP_001255214.1:p.Gln604Arg, XP_011526621.1:p.Gln733Arg, XP_047295417.1:p.Gln733Arg

Select item 147842662910.

rs1478426629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:7898696 (GRCh38)
19:7963581 (GRCh37)
Canonical SPDI:: NC_000019.10:7898695:T:C
Gene:: LRRC8E (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7898696T>C, NC_000019.9:g.7963581T>C, NG_050684.1:g.15192T>C, NM_025061.6:c.174T>C, NM_025061.5:c.174T>C, NM_025061.4:c.174T>C, NM_001268284.3:c.174T>C, NM_001268284.2:c.174T>C, NM_001268284.1:c.174T>C, NM_001268285.3:c.-214T>C, NM_001268285.2:c.-214T>C, NM_001268285.1:c.-214T>C, XM_011528319.3:c.174T>C, XM_011528319.2:c.174T>C, XM_011528319.1:c.174T>C, XM_047439461.1:c.174T>C

Select item 147786406811.

rs1477864068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:7900493 (GRCh38)
19:7965378 (GRCh37)
Canonical SPDI:: NC_000019.10:7900492:G:A,NC_000019.10:7900492:G:C
Gene:: LRRC8E (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7900493G>A, NC_000019.10:g.7900493G>C, NC_000019.9:g.7965378G>A, NC_000019.9:g.7965378G>C, NG_029438.2:g.1614G>A, NG_029438.2:g.1614G>C, NG_050684.1:g.16989G>A, NG_050684.1:g.16989G>C, NM_025061.6:c.1971G>A, NM_025061.6:c.1971G>C, NM_025061.5:c.1971G>A, NM_025061.5:c.1971G>C, NM_025061.4:c.1971G>A, NM_025061.4:c.1971G>C, NM_001268284.3:c.1971G>A, NM_001268284.3:c.1971G>C, NM_001268284.2:c.1971G>A, NM_001268284.2:c.1971G>C, NM_001268284.1:c.1971G>A, NM_001268284.1:c.1971G>C, NM_001268285.3:c.1584G>A, NM_001268285.3:c.1584G>C, NM_001268285.2:c.1584G>A, NM_001268285.2:c.1584G>C, NM_001268285.1:c.1584G>A, NM_001268285.1:c.1584G>C, XM_011528319.3:c.1971G>A, XM_011528319.3:c.1971G>C, XM_011528319.2:c.1971G>A, XM_011528319.2:c.1971G>C, XM_011528319.1:c.1971G>A, XM_011528319.1:c.1971G>C, XM_047439461.1:c.1971G>A, XM_047439461.1:c.1971G>C, NP_079337.2:p.Gln657His, NP_001255213.1:p.Gln657His, NP_001255214.1:p.Gln528His, XP_011526621.1:p.Gln657His, XP_047295417.1:p.Gln657His

Select item 147760389712.

rs1477603897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7900209 (GRCh38)
19:7965094 (GRCh37)
Canonical SPDI:: NC_000019.10:7900208:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7900209C>T, NC_000019.9:g.7965094C>T, NG_029438.2:g.1330C>T, NG_050684.1:g.16705C>T, NM_025061.6:c.1687C>T, NM_025061.5:c.1687C>T, NM_025061.4:c.1687C>T, NM_001268284.3:c.1687C>T, NM_001268284.2:c.1687C>T, NM_001268284.1:c.1687C>T, NM_001268285.3:c.1300C>T, NM_001268285.2:c.1300C>T, NM_001268285.1:c.1300C>T, XM_011528319.3:c.1687C>T, XM_011528319.2:c.1687C>T, XM_011528319.1:c.1687C>T, XM_047439461.1:c.1687C>T, NP_079337.2:p.Leu563Phe, NP_001255213.1:p.Leu563Phe, NP_001255214.1:p.Leu434Phe, XP_011526621.1:p.Leu563Phe, XP_047295417.1:p.Leu563Phe

Select item 147641169713.

rs1476411697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7899695 (GRCh38)
19:7964580 (GRCh37)
Canonical SPDI:: NC_000019.10:7899694:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000019.10:g.7899695C>T, NC_000019.9:g.7964580C>T, NG_029438.2:g.816C>T, NG_050684.1:g.16191C>T, NM_025061.6:c.1173C>T, NM_025061.5:c.1173C>T, NM_025061.4:c.1173C>T, NM_001268284.3:c.1173C>T, NM_001268284.2:c.1173C>T, NM_001268284.1:c.1173C>T, NM_001268285.3:c.786C>T, NM_001268285.2:c.786C>T, NM_001268285.1:c.786C>T, XM_011528319.3:c.1173C>T, XM_011528319.2:c.1173C>T, XM_011528319.1:c.1173C>T, XM_047439461.1:c.1173C>T

Select item 147389494714.

rs1473894947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:7898750 (GRCh38)
19:7963635 (GRCh37)
Canonical SPDI:: NC_000019.10:7898749:G:C
Gene:: LRRC8E (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7898750G>C, NC_000019.9:g.7963635G>C, NG_050684.1:g.15246G>C, NM_025061.6:c.228G>C, NM_025061.5:c.228G>C, NM_025061.4:c.228G>C, NM_001268284.3:c.228G>C, NM_001268284.2:c.228G>C, NM_001268284.1:c.228G>C, NM_001268285.3:c.-160G>C, NM_001268285.2:c.-160G>C, NM_001268285.1:c.-160G>C, XM_011528319.3:c.228G>C, XM_011528319.2:c.228G>C, XM_011528319.1:c.228G>C, XM_047439461.1:c.228G>C

Select item 147334552015.

rs1473345520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7900845 (GRCh38)
19:7965730 (GRCh37)
Canonical SPDI:: NC_000019.10:7900844:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.7900845C>T, NC_000019.9:g.7965730C>T, NG_029438.2:g.1966C>T, NG_050684.1:g.17341C>T, NM_025061.6:c.2323C>T, NM_025061.5:c.2323C>T, NM_025061.4:c.2323C>T, NM_001268284.3:c.2323C>T, NM_001268284.2:c.2323C>T, NM_001268284.1:c.2323C>T, NM_001268285.3:c.1936C>T, NM_001268285.2:c.1936C>T, NM_001268285.1:c.1936C>T, XM_011528319.3:c.2323C>T, XM_011528319.2:c.2323C>T, XM_011528319.1:c.2323C>T, XM_047439461.1:c.2323C>T, NP_079337.2:p.Leu775Phe, NP_001255213.1:p.Leu775Phe, NP_001255214.1:p.Leu646Phe, XP_011526621.1:p.Leu775Phe, XP_047295417.1:p.Leu775Phe

Select item 147329252016.

rs1473292520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7900196 (GRCh38)
19:7965081 (GRCh37)
Canonical SPDI:: NC_000019.10:7900195:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000019.10:g.7900196C>T, NC_000019.9:g.7965081C>T, NG_029438.2:g.1317C>T, NG_050684.1:g.16692C>T, NM_025061.6:c.1674C>T, NM_025061.5:c.1674C>T, NM_025061.4:c.1674C>T, NM_001268284.3:c.1674C>T, NM_001268284.2:c.1674C>T, NM_001268284.1:c.1674C>T, NM_001268285.3:c.1287C>T, NM_001268285.2:c.1287C>T, NM_001268285.1:c.1287C>T, XM_011528319.3:c.1674C>T, XM_011528319.2:c.1674C>T, XM_011528319.1:c.1674C>T, XM_047439461.1:c.1674C>T

Select item 147274357417.

rs1472743574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:7900270 (GRCh38)
19:7965155 (GRCh37)
Canonical SPDI:: NC_000019.10:7900269:C:A
Gene:: LRRC8E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7900270C>A, NC_000019.9:g.7965155C>A, NG_029438.2:g.1391C>A, NG_050684.1:g.16766C>A, NM_025061.6:c.1748C>A, NM_025061.5:c.1748C>A, NM_025061.4:c.1748C>A, NM_001268284.3:c.1748C>A, NM_001268284.2:c.1748C>A, NM_001268284.1:c.1748C>A, NM_001268285.3:c.1361C>A, NM_001268285.2:c.1361C>A, NM_001268285.1:c.1361C>A, XM_011528319.3:c.1748C>A, XM_011528319.2:c.1748C>A, XM_011528319.1:c.1748C>A, XM_047439461.1:c.1748C>A, NP_079337.2:p.Ala583Glu, NP_001255213.1:p.Ala583Glu, NP_001255214.1:p.Ala454Glu, XP_011526621.1:p.Ala583Glu, XP_047295417.1:p.Ala583Glu

Select item 147265119318.

rs1472651193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7899766 (GRCh38)
19:7964651 (GRCh37)
Canonical SPDI:: NC_000019.10:7899765:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.7899766C>T, NC_000019.9:g.7964651C>T, NG_029438.2:g.887C>T, NG_050684.1:g.16262C>T, NM_025061.6:c.1244C>T, NM_025061.5:c.1244C>T, NM_025061.4:c.1244C>T, NM_001268284.3:c.1244C>T, NM_001268284.2:c.1244C>T, NM_001268284.1:c.1244C>T, NM_001268285.3:c.857C>T, NM_001268285.2:c.857C>T, NM_001268285.1:c.857C>T, XM_011528319.3:c.1244C>T, XM_011528319.2:c.1244C>T, XM_011528319.1:c.1244C>T, XM_047439461.1:c.1244C>T, NP_079337.2:p.Ala415Val, NP_001255213.1:p.Ala415Val, NP_001255214.1:p.Ala286Val, XP_011526621.1:p.Ala415Val, XP_047295417.1:p.Ala415Val

Select item 147225646919.

rs1472256469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:7900061 (GRCh38)
19:7964946 (GRCh37)
Canonical SPDI:: NC_000019.10:7900060:C:A,NC_000019.10:7900060:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7900061C>A, NC_000019.10:g.7900061C>T, NC_000019.9:g.7964946C>A, NC_000019.9:g.7964946C>T, NG_029438.2:g.1182C>A, NG_029438.2:g.1182C>T, NG_050684.1:g.16557C>A, NG_050684.1:g.16557C>T, NM_025061.6:c.1539C>A, NM_025061.6:c.1539C>T, NM_025061.5:c.1539C>A, NM_025061.5:c.1539C>T, NM_025061.4:c.1539C>A, NM_025061.4:c.1539C>T, NM_001268284.3:c.1539C>A, NM_001268284.3:c.1539C>T, NM_001268284.2:c.1539C>A, NM_001268284.2:c.1539C>T, NM_001268284.1:c.1539C>A, NM_001268284.1:c.1539C>T, NM_001268285.3:c.1152C>A, NM_001268285.3:c.1152C>T, NM_001268285.2:c.1152C>A, NM_001268285.2:c.1152C>T, NM_001268285.1:c.1152C>A, NM_001268285.1:c.1152C>T, XM_011528319.3:c.1539C>A, XM_011528319.3:c.1539C>T, XM_011528319.2:c.1539C>A, XM_011528319.2:c.1539C>T, XM_011528319.1:c.1539C>A, XM_011528319.1:c.1539C>T, XM_047439461.1:c.1539C>A, XM_047439461.1:c.1539C>T, NP_079337.2:p.His513Gln, NP_001255213.1:p.His513Gln, NP_001255214.1:p.His384Gln, XP_011526621.1:p.His513Gln, XP_047295417.1:p.His513Gln

Select item 147056174220.

rs1470561742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7898851 (GRCh38)
19:7963736 (GRCh37)
Canonical SPDI:: NC_000019.10:7898850:C:T
Gene:: LRRC8E (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7898851C>T, NC_000019.9:g.7963736C>T, NG_050684.1:g.15347C>T, NM_025061.6:c.329C>T, NM_025061.5:c.329C>T, NM_025061.4:c.329C>T, NM_001268284.3:c.329C>T, NM_001268284.2:c.329C>T, NM_001268284.1:c.329C>T, NM_001268285.3:c.-59C>T, NM_001268285.2:c.-59C>T, NM_001268285.1:c.-59C>T, XM_011528319.3:c.329C>T, XM_011528319.2:c.329C>T, XM_011528319.1:c.329C>T, XM_047439461.1:c.329C>T, NP_079337.2:p.Ala110Val, NP_001255213.1:p.Ala110Val, XP_011526621.1:p.Ala110Val, XP_047295417.1:p.Ala110Val

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 928

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 928

Page of 47

Page of 47

Display Settings:

Supplemental Content

Find related data

Recent activity