Canonical Allele Identifier: CA383456366

Gene: KCNA1

Linked Data

• gnomAD v4: 12-4912628-G-T
• MyVariant Identifiers: chr12:g.5021794G>T (hg19) ; chr12:g.4912628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912628G>T , CM000674.2:g.4912628G>T	GRCh38
NC_000012.11:g.5021794G>T , CM000674.1:g.5021794G>T	GRCh37
NC_000012.10:g.4892055G>T	NCBI36
NG_011815.1:g.7722G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1250G>T MANE Select	ENSP00000371985.3:p.Arg417Leu
ENST00000543874.3:n.105+2156G>T
ENST00000639306.1:c.1088G>T	ENSP00000492506.1:p.Arg363Leu
ENST00000639680.1:c.76+362G>T
ENST00000382545.3:c.1250G>T	ENSP00000371985.3:p.Arg417Leu
ENST00000541095.1:n.105+2156G>T
ENST00000543874.2:n.96+2156G>T
NM_000217.2:c.1250G>T	NP_000208.2:p.Arg417Leu
NM_000217.3:c.1250G>T MANE Select	NP_000208.2:p.Arg417Leu