Canonical Allele Identifier: CA383456136
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021685G>C (hg19) chr12:g.4912519G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912519G>C , CM000674.2:g.4912519G>C GRCh38
NC_000012.11:g.5021685G>C , CM000674.1:g.5021685G>C GRCh37
NC_000012.10:g.4891946G>C NCBI36
NG_011815.1:g.7613G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1141G>C MANE Select ENSP00000371985.3:p.Val381Leu
ENST00000543874.3:n.105+2047G>C
ENST00000639306.1:c.979G>C ENSP00000492506.1:p.Val327Leu
ENST00000639680.1:c.76+253G>C
ENST00000382545.3:c.1141G>C ENSP00000371985.3:p.Val381Leu
ENST00000541095.1:n.105+2047G>C
ENST00000543874.2:n.96+2047G>C
NM_000217.2:c.1141G>C NP_000208.2:p.Val381Leu
NM_000217.3:c.1141G>C MANE Select NP_000208.2:p.Val381Leu
Search 100 bp 5'
Search 100 bp 3'