Canonical Allele Identifier: CA341286
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13480
ClinVar RCV Id: RCV000014424
dbSNP Id: rs104894352
MyVariant Identifiers: chr12:g.5021767T>C (hg19) chr12:g.4912601T>C (hg38)
PubMed: PMID:7842011 PMID:8845167 PMID:20301785
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912601T>C , CM000674.2:g.4912601T>C GRCh38
NC_000012.11:g.5021767T>C , CM000674.1:g.5021767T>C GRCh37
NC_000012.10:g.4892028T>C NCBI36
NG_011815.1:g.7695T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1223T>C MANE Select ENSP00000371985.3:p.Val408Ala
ENST00000543874.3:n.105+2129T>C
ENST00000639306.1:c.1061T>C ENSP00000492506.1:p.Val354Ala
ENST00000639680.1:c.76+335T>C
ENST00000382545.3:c.1223T>C ENSP00000371985.3:p.Val408Ala
ENST00000541095.1:n.105+2129T>C
ENST00000543874.2:n.96+2129T>C
NM_000217.2:c.1223T>C NP_000208.2:p.Val408Ala
NM_000217.3:c.1223T>C MANE Select NP_000208.2:p.Val408Ala
Search 100 bp 5'
Search 100 bp 3'