Canonical Allele Identifier: CA383455778
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021530T>C (hg19) chr12:g.4912364T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912364T>C , CM000674.2:g.4912364T>C GRCh38
NC_000012.11:g.5021530T>C , CM000674.1:g.5021530T>C GRCh37
NC_000012.10:g.4891791T>C NCBI36
NG_011815.1:g.7458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.986T>C MANE Select ENSP00000371985.3:p.Leu329Pro
ENST00000543874.3:n.105+1892T>C
ENST00000639306.1:c.824T>C ENSP00000492506.1:p.Leu275Pro
ENST00000639680.1:c.76+98T>C
ENST00000382545.3:c.986T>C ENSP00000371985.3:p.Leu329Pro
ENST00000541095.1:n.105+1892T>C
ENST00000543874.2:n.96+1892T>C
NM_000217.2:c.986T>C NP_000208.2:p.Leu329Pro
NM_000217.3:c.986T>C MANE Select NP_000208.2:p.Leu329Pro
Search 100 bp 5'
Search 100 bp 3'