Canonical Allele Identifier: CA6399478

Gene: KCNA1

Linked Data

• dbSNP Id: rs771334337
• ExAC: 12:5021801 TGAGGGGGAA / T
• gnomAD v2: 12-5021801-TGAGGGGGAA-T
• gnomAD v4: 12-4912635-TGAGGGGGAA-T
• MyVariant Identifiers: chr12:g.5021802_5021810del (hg19) ; chr12:g.4912636_4912644del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912639_4912647del , CM000674.2:g.4912639_4912647del	GRCh38
NC_000012.11:g.5021805_5021813del , CM000674.1:g.5021805_5021813del	GRCh37
NC_000012.10:g.4892066_4892074del	NCBI36
NG_011815.1:g.7733_7741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1261_1269del MANE Select	ENSP00000371985.3:p.Gly421_Glu423del
ENST00000543874.3:n.105+2167_105+2175del
ENST00000639306.1:c.1099_1107del	ENSP00000492506.1:p.Gly367_Glu369del
ENST00000639680.1:c.76+373_76+381del
ENST00000382545.3:c.1261_1269del	ENSP00000371985.3:p.Gly421_Glu423del
ENST00000541095.1:n.105+2167_105+2175del
ENST00000543874.2:n.96+2167_96+2175del
NM_000217.2:c.1261_1269del	NP_000208.2:p.Gly421_Glu423del
NM_000217.3:c.1261_1269del MANE Select	NP_000208.2:p.Gly421_Glu423del