Canonical Allele Identifier: CA383455376
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 591423
ClinVar RCV Id: RCV000722602
dbSNP Id: rs1565433356
MyVariant Identifiers: chr12:g.5021347C>A (hg19) chr12:g.4912181C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912181C>A , CM000674.2:g.4912181C>A GRCh38
NC_000012.11:g.5021347C>A , CM000674.1:g.5021347C>A GRCh37
NC_000012.10:g.4891608C>A NCBI36
NG_011815.1:g.7275C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.803C>A MANE Select ENSP00000371985.3:p.Thr268Lys
ENST00000543874.3:n.105+1709C>A
ENST00000639306.1:c.641C>A ENSP00000492506.1:p.Thr214Lys
ENST00000382545.3:c.803C>A ENSP00000371985.3:p.Thr268Lys
ENST00000541095.1:n.105+1709C>A
ENST00000543874.2:n.96+1709C>A
NM_000217.2:c.803C>A NP_000208.2:p.Thr268Lys
NM_000217.3:c.803C>A MANE Select NP_000208.2:p.Thr268Lys
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