Canonical Allele Identifier: CA383456101
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1411967
ClinVar RCV Id: RCV001918958
dbSNP Id: rs1555085786
MyVariant Identifiers: chr12:g.5021670G>A (hg19) chr12:g.4912504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912504G>A , CM000674.2:g.4912504G>A GRCh38
NC_000012.11:g.5021670G>A , CM000674.1:g.5021670G>A GRCh37
NC_000012.10:g.4891931G>A NCBI36
NG_011815.1:g.7598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1126G>A MANE Select ENSP00000371985.3:p.Gly376Ser
ENST00000543874.3:n.105+2032G>A
ENST00000639306.1:c.964G>A ENSP00000492506.1:p.Gly322Ser
ENST00000639680.1:c.76+238G>A
ENST00000382545.3:c.1126G>A ENSP00000371985.3:p.Gly376Ser
ENST00000541095.1:n.105+2032G>A
ENST00000543874.2:n.96+2032G>A
NM_000217.2:c.1126G>A NP_000208.2:p.Gly376Ser
NM_000217.3:c.1126G>A MANE Select NP_000208.2:p.Gly376Ser
Search 100 bp 5'
Search 100 bp 3'