SNP Links for Protein (Select 167555110) - SNP

Links from Protein

Items: 1 to 20 of 611

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Select item 14870673211.

rs1487067321 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:33398077 (GRCh38)
6:33365854 (GRCh37)
Canonical SPDI:: NC_000006.12:33398074:CTCT:CT
Gene:: KIFC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33398075CT[1], NC_000006.11:g.33365852CT[1], NT_167248.2:g.4592475CT[1], NT_167248.1:g.4598071CT[1], NT_167249.2:g.4846774CT[1], NT_167249.1:g.4846072CT[1], NM_002263.4:c.61_62del, NM_002263.3:c.61_62del, XM_011514587.3:c.61_62del, XM_011514587.2:c.61_62del, XM_011514587.1:c.61_62del, XM_017010837.2:c.-65CT[1], XM_017010837.1:c.-65CT[1], XM_011514585.2:c.61_62del, XM_011514585.1:c.61_62del, NP_002254.2:p.Leu21fs, XP_011512889.1:p.Leu21fs, XP_011512887.1:p.Leu21fs

Select item 14837974532.

rs1483797453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33406473 (GRCh38)
6:33374250 (GRCh37)
Canonical SPDI:: NC_000006.12:33406472:C:T
Gene:: KIFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33406473C>T, NC_000006.11:g.33374250C>T, NT_167248.2:g.4600871C>T, NT_167248.1:g.4606467C>T, NT_167249.2:g.4855171C>T, NT_167249.1:g.4854469C>T, NM_002263.4:c.1814C>T, NM_002263.3:c.1814C>T, XM_011514587.3:c.1034C>T, XM_011514587.2:c.1034C>T, XM_011514587.1:c.1034C>T, XM_017010837.2:c.1691C>T, XM_017010837.1:c.1691C>T, XM_011514585.2:c.1814C>T, XM_011514585.1:c.1814C>T, NP_002254.2:p.Ala605Val, XP_011512889.1:p.Ala345Val, XP_016866326.2:p.Ala564Val, XP_011512887.1:p.Ala605Val

Select item 14824426213.

rs1482442621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:33405531 (GRCh38)
6:33373308 (GRCh37)
Canonical SPDI:: NC_000006.12:33405530:A:C
Gene:: KIFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33405531A>C, NC_000006.11:g.33373308A>C, NT_167248.2:g.4599929A>C, NT_167248.1:g.4605525A>C, NT_167249.2:g.4854229A>C, NT_167249.1:g.4853527A>C, NM_002263.4:c.1436A>C, NM_002263.3:c.1436A>C, XM_017010837.2:c.1313A>C, XM_017010837.1:c.1313A>C, XM_011514585.2:c.1436A>C, XM_011514585.1:c.1436A>C, NP_002254.2:p.Lys479Thr, XP_016866326.2:p.Lys438Thr, XP_011512887.1:p.Lys479Thr

Select item 14784796504.

rs1478479650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:33406358 (GRCh38)
6:33374135 (GRCh37)
Canonical SPDI:: NC_000006.12:33406357:G:T
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33406358G>T, NC_000006.11:g.33374135G>T, NT_167248.2:g.4600756G>T, NT_167248.1:g.4606352G>T, NT_167249.2:g.4855056G>T, NT_167249.1:g.4854354G>T, NM_002263.4:c.1699G>T, NM_002263.3:c.1699G>T, XM_011514587.3:c.919G>T, XM_011514587.2:c.919G>T, XM_011514587.1:c.919G>T, XM_017010837.2:c.1576G>T, XM_017010837.1:c.1576G>T, XM_011514585.2:c.1699G>T, XM_011514585.1:c.1699G>T, NP_002254.2:p.Ala567Ser, XP_011512889.1:p.Ala307Ser, XP_016866326.2:p.Ala526Ser, XP_011512887.1:p.Ala567Ser

Select item 14764774355.

rs1476477435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33405369 (GRCh38)
6:33373146 (GRCh37)
Canonical SPDI:: NC_000006.12:33405368:G:A
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33405369G>A, NC_000006.11:g.33373146G>A, NT_167248.2:g.4599767G>A, NT_167248.1:g.4605363G>A, NT_167249.2:g.4854067G>A, NT_167249.1:g.4853365G>A, NM_002263.4:c.1274G>A, NM_002263.3:c.1274G>A, XM_017010837.2:c.1151G>A, XM_017010837.1:c.1151G>A, XM_011514585.2:c.1274G>A, XM_011514585.1:c.1274G>A, NP_002254.2:p.Gly425Glu, XP_016866326.2:p.Gly384Glu, XP_011512887.1:p.Gly425Glu

Select item 14759820136.

rs1475982013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:33405441 (GRCh38)
6:33373218 (GRCh37)
Canonical SPDI:: NC_000006.12:33405440:G:A,NC_000006.12:33405440:G:T
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33405441G>A, NC_000006.12:g.33405441G>T, NC_000006.11:g.33373218G>A, NC_000006.11:g.33373218G>T, NT_167248.2:g.4599839G>A, NT_167248.2:g.4599839G>T, NT_167248.1:g.4605435G>A, NT_167248.1:g.4605435G>T, NT_167249.2:g.4854139G>A, NT_167249.2:g.4854139G>T, NT_167249.1:g.4853437G>A, NT_167249.1:g.4853437G>T, NM_002263.4:c.1346G>A, NM_002263.4:c.1346G>T, NM_002263.3:c.1346G>A, NM_002263.3:c.1346G>T, XM_017010837.2:c.1223G>A, XM_017010837.2:c.1223G>T, XM_017010837.1:c.1223G>A, XM_017010837.1:c.1223G>T, XM_011514585.2:c.1346G>A, XM_011514585.2:c.1346G>T, XM_011514585.1:c.1346G>A, XM_011514585.1:c.1346G>T, NP_002254.2:p.Ser449Asn, NP_002254.2:p.Ser449Ile, XP_016866326.2:p.Ser408Asn, XP_016866326.2:p.Ser408Ile, XP_011512887.1:p.Ser449Asn, XP_011512887.1:p.Ser449Ile

Select item 14746169867.

rs1474616986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33404988 (GRCh38)
6:33372765 (GRCh37)
Canonical SPDI:: NC_000006.12:33404987:G:A
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33404988G>A, NC_000006.11:g.33372765G>A, NT_167248.2:g.4599386G>A, NT_167248.1:g.4604982G>A, NT_167249.2:g.4853686G>A, NT_167249.1:g.4852984G>A, NM_002263.4:c.893G>A, NM_002263.3:c.893G>A, XM_017010837.2:c.770G>A, XM_017010837.1:c.770G>A, XM_011514585.2:c.893G>A, XM_011514585.1:c.893G>A, NP_002254.2:p.Arg298Gln, XP_016866326.2:p.Arg257Gln, XP_011512887.1:p.Arg298Gln

Select item 14726688558.

rs1472668855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33405606 (GRCh38)
6:33373383 (GRCh37)
Canonical SPDI:: NC_000006.12:33405605:A:G
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000006.12:g.33405606A>G, NC_000006.11:g.33373383A>G, NT_167248.2:g.4600004A>G, NT_167248.1:g.4605600A>G, NT_167249.2:g.4854304A>G, NT_167249.1:g.4853602A>G, NM_002263.4:c.1511A>G, NM_002263.3:c.1511A>G, XM_017010837.2:c.1388A>G, XM_017010837.1:c.1388A>G, XM_011514585.2:c.1511A>G, XM_011514585.1:c.1511A>G, NP_002254.2:p.Tyr504Cys, XP_016866326.2:p.Tyr463Cys, XP_011512887.1:p.Tyr504Cys

Select item 14719435059.

rs1471943505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:33403857 (GRCh38)
6:33371634 (GRCh37)
Canonical SPDI:: NC_000006.12:33403856:C:A,NC_000006.12:33403856:C:T
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33403857C>A, NC_000006.12:g.33403857C>T, NC_000006.11:g.33371634C>A, NC_000006.11:g.33371634C>T, NT_167248.2:g.4598255C>A, NT_167248.2:g.4598255C>T, NT_167248.1:g.4603851C>A, NT_167248.1:g.4603851C>T, NT_167249.2:g.4852555C>A, NT_167249.2:g.4852555C>T, NT_167249.1:g.4851853C>A, NT_167249.1:g.4851853C>T, NM_002263.4:c.484C>A, NM_002263.4:c.484C>T, NM_002263.3:c.484C>A, NM_002263.3:c.484C>T, XM_011514587.3:c.484C>A, XM_011514587.3:c.484C>T, XM_011514587.2:c.484C>A, XM_011514587.2:c.484C>T, XM_011514587.1:c.484C>A, XM_011514587.1:c.484C>T, XM_017010837.2:c.361C>A, XM_017010837.2:c.361C>T, XM_017010837.1:c.361C>A, XM_017010837.1:c.361C>T, XM_011514585.2:c.484C>A, XM_011514585.2:c.484C>T, XM_011514585.1:c.484C>A, XM_011514585.1:c.484C>T, NP_002254.2:p.Gln162Lys, NP_002254.2:p.Gln162Ter, XP_011512889.1:p.Gln162Lys, XP_011512889.1:p.Gln162Ter, XP_016866326.2:p.Gln121Lys, XP_016866326.2:p.Gln121Ter, XP_011512887.1:p.Gln162Lys, XP_011512887.1:p.Gln162Ter

Select item 146877896910.

rs1468778969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33405204 (GRCh38)
6:33372981 (GRCh37)
Canonical SPDI:: NC_000006.12:33405203:A:G
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33405204A>G, NC_000006.11:g.33372981A>G, NT_167248.2:g.4599602A>G, NT_167248.1:g.4605198A>G, NT_167249.2:g.4853902A>G, NT_167249.1:g.4853200A>G, NM_002263.4:c.1109A>G, NM_002263.3:c.1109A>G, XM_017010837.2:c.986A>G, XM_017010837.1:c.986A>G, XM_011514585.2:c.1109A>G, XM_011514585.1:c.1109A>G, NP_002254.2:p.His370Arg, XP_016866326.2:p.His329Arg, XP_011512887.1:p.His370Arg

Select item 146873946711.

rs1468739467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33403753 (GRCh38)
6:33371530 (GRCh37)
Canonical SPDI:: NC_000006.12:33403752:G:C
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33403753G>C, NC_000006.11:g.33371530G>C, NT_167248.2:g.4598151G>C, NT_167248.1:g.4603747G>C, NT_167249.2:g.4852451G>C, NT_167249.1:g.4851749G>C, NM_002263.4:c.380G>C, NM_002263.3:c.380G>C, XM_011514587.3:c.380G>C, XM_011514587.2:c.380G>C, XM_011514587.1:c.380G>C, XM_017010837.2:c.257G>C, XM_017010837.1:c.257G>C, XM_011514585.2:c.380G>C, XM_011514585.1:c.380G>C, NP_002254.2:p.Gly127Ala, XP_011512889.1:p.Gly127Ala, XP_016866326.2:p.Gly86Ala, XP_011512887.1:p.Gly127Ala

Select item 146392818512.

rs1463928185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:33404930 (GRCh38)
6:33372707 (GRCh37)
Canonical SPDI:: NC_000006.12:33404929:C:A,NC_000006.12:33404929:C:G
Gene:: KIFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33404930C>A, NC_000006.12:g.33404930C>G, NC_000006.11:g.33372707C>A, NC_000006.11:g.33372707C>G, NT_167248.2:g.4599328C>A, NT_167248.2:g.4599328C>G, NT_167248.1:g.4604924C>A, NT_167248.1:g.4604924C>G, NT_167249.2:g.4853628C>A, NT_167249.2:g.4853628C>G, NT_167249.1:g.4852926C>A, NT_167249.1:g.4852926C>G, NM_002263.4:c.835C>A, NM_002263.4:c.835C>G, NM_002263.3:c.835C>A, NM_002263.3:c.835C>G, XM_017010837.2:c.712C>A, XM_017010837.2:c.712C>G, XM_017010837.1:c.712C>A, XM_017010837.1:c.712C>G, XM_011514585.2:c.835C>A, XM_011514585.2:c.835C>G, XM_011514585.1:c.835C>A, XM_011514585.1:c.835C>G, NP_002254.2:p.Gln279Lys, NP_002254.2:p.Gln279Glu, XP_016866326.2:p.Gln238Lys, XP_016866326.2:p.Gln238Glu, XP_011512887.1:p.Gln279Lys, XP_011512887.1:p.Gln279Glu

Select item 146370218613.

rs1463702186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33405007 (GRCh38)
6:33372784 (GRCh37)
Canonical SPDI:: NC_000006.12:33405006:G:A
Gene:: KIFC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33405007G>A, NC_000006.11:g.33372784G>A, NT_167248.2:g.4599405G>A, NT_167248.1:g.4605001G>A, NT_167249.2:g.4853705G>A, NT_167249.1:g.4853003G>A, NM_002263.4:c.912G>A, NM_002263.3:c.912G>A, XM_017010837.2:c.789G>A, XM_017010837.1:c.789G>A, XM_011514585.2:c.912G>A, XM_011514585.1:c.912G>A

Select item 146080904214.

rs1460809042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:33404914 (GRCh38)
6:33372691 (GRCh37)
Canonical SPDI:: NC_000006.12:33404913:G:T
Gene:: KIFC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33404914G>T, NC_000006.11:g.33372691G>T, NT_167248.2:g.4599312G>T, NT_167248.1:g.4604908G>T, NT_167249.2:g.4853612G>T, NT_167249.1:g.4852910G>T, NM_002263.4:c.819G>T, NM_002263.3:c.819G>T, XM_017010837.2:c.696G>T, XM_017010837.1:c.696G>T, XM_011514585.2:c.819G>T, XM_011514585.1:c.819G>T

Select item 146077850315.

rs1460778503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:33405569 (GRCh38)
6:33373346 (GRCh37)
Canonical SPDI:: NC_000006.12:33405568:C:A,NC_000006.12:33405568:C:T
Gene:: KIFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000006.12:g.33405569C>A, NC_000006.12:g.33405569C>T, NC_000006.11:g.33373346C>A, NC_000006.11:g.33373346C>T, NT_167248.2:g.4599967C>A, NT_167248.2:g.4599967C>T, NT_167248.1:g.4605563C>A, NT_167248.1:g.4605563C>T, NT_167249.2:g.4854267C>A, NT_167249.2:g.4854267C>T, NT_167249.1:g.4853565C>A, NT_167249.1:g.4853565C>T, NM_002263.4:c.1474C>A, NM_002263.4:c.1474C>T, NM_002263.3:c.1474C>A, NM_002263.3:c.1474C>T, XM_017010837.2:c.1351C>A, XM_017010837.2:c.1351C>T, XM_017010837.1:c.1351C>A, XM_017010837.1:c.1351C>T, XM_011514585.2:c.1474C>A, XM_011514585.2:c.1474C>T, XM_011514585.1:c.1474C>A, XM_011514585.1:c.1474C>T, NP_002254.2:p.Pro492Thr, NP_002254.2:p.Pro492Ser, XP_016866326.2:p.Pro451Thr, XP_016866326.2:p.Pro451Ser, XP_011512887.1:p.Pro492Thr, XP_011512887.1:p.Pro492Ser

Select item 145718711016.

rs1457187110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33403846 (GRCh38)
6:33371623 (GRCh37)
Canonical SPDI:: NC_000006.12:33403845:A:G
Gene:: KIFC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33403846A>G, NC_000006.11:g.33371623A>G, NT_167248.2:g.4598244A>G, NT_167248.1:g.4603840A>G, NT_167249.2:g.4852544A>G, NT_167249.1:g.4851842A>G, NM_002263.4:c.473A>G, NM_002263.3:c.473A>G, XM_011514587.3:c.473A>G, XM_011514587.2:c.473A>G, XM_011514587.1:c.473A>G, XM_017010837.2:c.350A>G, XM_017010837.1:c.350A>G, XM_011514585.2:c.473A>G, XM_011514585.1:c.473A>G, NP_002254.2:p.Gln158Arg, XP_011512889.1:p.Gln158Arg, XP_016866326.2:p.Gln117Arg, XP_011512887.1:p.Gln158Arg

Select item 145235082617.

rs1452350826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33406403 (GRCh38)
6:33374180 (GRCh37)
Canonical SPDI:: NC_000006.12:33406402:G:A
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33406403G>A, NC_000006.11:g.33374180G>A, NT_167248.2:g.4600801G>A, NT_167248.1:g.4606397G>A, NT_167249.2:g.4855101G>A, NT_167249.1:g.4854399G>A, NM_002263.4:c.1744G>A, NM_002263.3:c.1744G>A, XM_011514587.3:c.964G>A, XM_011514587.2:c.964G>A, XM_011514587.1:c.964G>A, XM_017010837.2:c.1621G>A, XM_017010837.1:c.1621G>A, XM_011514585.2:c.1744G>A, XM_011514585.1:c.1744G>A, NP_002254.2:p.Glu582Lys, XP_011512889.1:p.Glu322Lys, XP_016866326.2:p.Glu541Lys, XP_011512887.1:p.Glu582Lys

Select item 145178429418.

rs1451784294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:33406643 (GRCh38)
6:33374420 (GRCh37)
Canonical SPDI:: NC_000006.12:33406642:T:A
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.33406643T>A, NC_000006.11:g.33374420T>A, NT_167248.2:g.4601041T>A, NT_167248.1:g.4606637T>A, NT_167249.2:g.4855341T>A, NT_167249.1:g.4854639T>A, NM_002263.4:c.1879T>A, NM_002263.3:c.1879T>A, XM_011514587.3:c.1099T>A, XM_011514587.2:c.1099T>A, XM_011514587.1:c.1099T>A, XM_017010837.2:c.1756T>A, XM_017010837.1:c.1756T>A, XM_011514585.2:c.1879T>A, XM_011514585.1:c.1879T>A, NP_002254.2:p.Ser627Thr, XP_011512889.1:p.Ser367Thr, XP_016866326.2:p.Ser586Thr, XP_011512887.1:p.Ser627Thr

Select item 145153616419.

rs1451536164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:33406247 (GRCh38)
6:33374024 (GRCh37)
Canonical SPDI:: NC_000006.12:33406246:G:A,NC_000006.12:33406246:G:T
Gene:: KIFC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33406247G>A, NC_000006.12:g.33406247G>T, NC_000006.11:g.33374024G>A, NC_000006.11:g.33374024G>T, NT_167248.2:g.4600645G>A, NT_167248.2:g.4600645G>T, NT_167248.1:g.4606241G>A, NT_167248.1:g.4606241G>T, NT_167249.2:g.4854945G>A, NT_167249.2:g.4854945G>T, NT_167249.1:g.4854243G>A, NT_167249.1:g.4854243G>T, NM_002263.4:c.1588G>A, NM_002263.4:c.1588G>T, NM_002263.3:c.1588G>A, NM_002263.3:c.1588G>T, XM_011514587.3:c.808G>A, XM_011514587.3:c.808G>T, XM_011514587.2:c.808G>A, XM_011514587.2:c.808G>T, XM_011514587.1:c.808G>A, XM_011514587.1:c.808G>T, XM_017010837.2:c.1465G>A, XM_017010837.2:c.1465G>T, XM_017010837.1:c.1465G>A, XM_017010837.1:c.1465G>T, XM_011514585.2:c.1588G>A, XM_011514585.2:c.1588G>T, XM_011514585.1:c.1588G>A, XM_011514585.1:c.1588G>T, NP_002254.2:p.Ala530Thr, NP_002254.2:p.Ala530Ser, XP_011512889.1:p.Ala270Thr, XP_011512889.1:p.Ala270Ser, XP_016866326.2:p.Ala489Thr, XP_016866326.2:p.Ala489Ser, XP_011512887.1:p.Ala530Thr, XP_011512887.1:p.Ala530Ser

Select item 144853376720.

rs1448533767 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:33398039 (GRCh38)
6:33365816 (GRCh37)
Canonical SPDI:: NC_000006.12:33398038:T:
Gene:: KIFC1 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33398039del, NC_000006.11:g.33365816del, NT_167248.2:g.4592439del, NT_167248.1:g.4598035del, NT_167249.2:g.4846738del, NT_167249.1:g.4846036del, NM_002263.4:c.23del, NM_002263.3:c.23del, XM_011514587.3:c.23del, XM_011514587.2:c.23del, XM_011514587.1:c.23del, XM_017010837.2:c.-101del, XM_017010837.1:c.-101del, XM_011514585.2:c.23del, XM_011514585.1:c.23del, NP_002254.2:p.Leu8fs, XP_011512889.1:p.Leu8fs, XP_011512887.1:p.Leu8fs

dbSNP

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