Canonical Allele Identifier: CA383456271
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 644532
ClinVar RCV Id: RCV000798472
dbSNP Id: rs1591627924
MyVariant Identifiers: chr12:g.5021751C>A (hg19) chr12:g.4912585C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912585C>A , CM000674.2:g.4912585C>A GRCh38
NC_000012.11:g.5021751C>A , CM000674.1:g.5021751C>A GRCh37
NC_000012.10:g.4892012C>A NCBI36
NG_011815.1:g.7679C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1207C>A MANE Select ENSP00000371985.3:p.Pro403Thr
ENST00000543874.3:n.105+2113C>A
ENST00000639306.1:c.1045C>A ENSP00000492506.1:p.Pro349Thr
ENST00000639680.1:c.76+319C>A
ENST00000382545.3:c.1207C>A ENSP00000371985.3:p.Pro403Thr
ENST00000541095.1:n.105+2113C>A
ENST00000543874.2:n.96+2113C>A
NM_000217.2:c.1207C>A NP_000208.2:p.Pro403Thr
NM_000217.3:c.1207C>A MANE Select NP_000208.2:p.Pro403Thr
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