Canonical Allele Identifier: CA383454930
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021149T>A (hg19) chr12:g.4911983T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911983T>A , CM000674.2:g.4911983T>A GRCh38
NC_000012.11:g.5021149T>A , CM000674.1:g.5021149T>A GRCh37
NC_000012.10:g.4891410T>A NCBI36
NG_011815.1:g.7077T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.605T>A MANE Select ENSP00000371985.3:p.Val202Asp
ENST00000543874.3:n.105+1511T>A
ENST00000639306.1:c.443T>A ENSP00000492506.1:p.Val148Asp
ENST00000382545.3:c.605T>A ENSP00000371985.3:p.Val202Asp
ENST00000541095.1:n.105+1511T>A
ENST00000543874.2:n.96+1511T>A
NM_000217.2:c.605T>A NP_000208.2:p.Val202Asp
NM_000217.3:c.605T>A MANE Select NP_000208.2:p.Val202Asp
Search 100 bp 5'
Search 100 bp 3'