Canonical Allele Identifier: CA6399479

Gene: KCNA1

Linked Data

• dbSNP Id: rs774708491
• ExAC: 12:5021813 G / GCTC
• gnomAD v2: 12-5021813-G-GCTC
• gnomAD v4: 12-4912647-G-GCTC
• MyVariant Identifiers: chr12:g.5021813_5021814insCTC (hg19) ; chr12:g.4912647_4912648insCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912648_4912649insTCC , CM000674.2:g.4912648_4912649insTCC	GRCh38
NC_000012.11:g.5021814_5021815insTCC , CM000674.1:g.5021814_5021815insTCC	GRCh37
NC_000012.10:g.4892075_4892076insTCC	NCBI36
NG_011815.1:g.7742_7743insTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1270_1271insTCC MANE Select	ENSP00000371985.3:p.Glu423_Gln424insLeu
ENST00000543874.3:n.105+2176_105+2177insTCC
ENST00000639306.1:c.1108_1109insTCC	ENSP00000492506.1:p.Glu369_Gln370insLeu
ENST00000639680.1:c.76+382_76+383insTCC
ENST00000382545.3:c.1270_1271insTCC	ENSP00000371985.3:p.Glu423_Gln424insLeu
ENST00000541095.1:n.105+2176_105+2177insTCC
ENST00000543874.2:n.96+2176_96+2177insTCC
NM_000217.2:c.1270_1271insTCC	NP_000208.2:p.Glu423_Gln424insLeu
NM_000217.3:c.1270_1271insTCC MANE Select	NP_000208.2:p.Glu423_Gln424insLeu