Canonical Allele Identifier: CA944246528

Gene: KCNA1

Linked Data

• gnomAD v3: 12-4912619-T-TAATGATACGG
• gnomAD v4: 12-4912619-T-TAATGATACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912619_4912620insAATGATACGG , CM000674.2:g.4912619_4912620insAATGATACGG	GRCh38
NC_000012.11:g.5021785_5021786insAATGATACGG , CM000674.1:g.5021785_5021786insAATGATACGG	GRCh37
NC_000012.10:g.4892046_4892047insAATGATACGG	NCBI36
NG_011815.1:g.7713_7714insAATGATACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1241_1242insAATGATACGG MANE Select	ENSP00000371985.3:p.Phe414LeufsTer10
ENST00000543874.3:n.105+2147_105+2148insAATGATACGG
ENST00000639306.1:c.1079_1080insAATGATACGG	ENSP00000492506.1:p.Phe360LeufsTer10
ENST00000639680.1:c.76+353_76+354insAATGATACGG
ENST00000382545.3:c.1241_1242insAATGATACGG	ENSP00000371985.3:p.Phe414LeufsTer10
ENST00000541095.1:n.105+2147_105+2148insAATGATACGG
ENST00000543874.2:n.96+2147_96+2148insAATGATACGG
NM_000217.2:c.1241_1242insAATGATACGG	NP_000208.2:p.Phe414LeufsTer10
NM_000217.3:c.1241_1242insAATGATACGG MANE Select	NP_000208.2:p.Phe414LeufsTer10