Canonical Allele Identifier: CA383455027

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021193T>C (hg19) ; chr12:g.4912027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912027T>C , CM000674.2:g.4912027T>C	GRCh38
NC_000012.11:g.5021193T>C , CM000674.1:g.5021193T>C	GRCh37
NC_000012.10:g.4891454T>C	NCBI36
NG_011815.1:g.7121T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.649T>C MANE Select	ENSP00000371985.3:p.Phe217Leu
ENST00000543874.3:n.105+1555T>C
ENST00000639306.1:c.487T>C	ENSP00000492506.1:p.Phe163Leu
ENST00000382545.3:c.649T>C	ENSP00000371985.3:p.Phe217Leu
ENST00000541095.1:n.105+1555T>C
ENST00000543874.2:n.96+1555T>C
NM_000217.2:c.649T>C	NP_000208.2:p.Phe217Leu
NM_000217.3:c.649T>C MANE Select	NP_000208.2:p.Phe217Leu