Canonical Allele Identifier: CA6399480

Gene: KCNA1

Linked Data

• dbSNP Id: rs759982414
• ExAC: 12:5021815 AGG / A
• gnomAD v2: 12-5021815-AGG-A
• gnomAD v4: 12-4912649-AGG-A
• MyVariant Identifiers: chr12:g.5021816_5021817del (hg19) ; chr12:g.4912650_4912651del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912650_4912651del , CM000674.2:g.4912650_4912651del	GRCh38
NC_000012.11:g.5021816_5021817del , CM000674.1:g.5021816_5021817del	GRCh37
NC_000012.10:g.4892077_4892078del	NCBI36
NG_011815.1:g.7744_7745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1272_1273del MANE Select	ENSP00000371985.3:p.Gln424HisfsTer10
ENST00000543874.3:n.105+2178_105+2179del
ENST00000639306.1:c.1110_1111del	ENSP00000492506.1:p.Gln370HisfsTer10
ENST00000639680.1:c.76+384_76+385del
ENST00000382545.3:c.1272_1273del	ENSP00000371985.3:p.Gln424HisfsTer10
ENST00000541095.1:n.105+2178_105+2179del
ENST00000543874.2:n.96+2178_96+2179del
NM_000217.2:c.1272_1273del	NP_000208.2:p.Gln424HisfsTer10
NM_000217.3:c.1272_1273del MANE Select	NP_000208.2:p.Gln424HisfsTer10