Canonical Allele Identifier: CA478094335

Gene: KCNA1

Linked Data

• gnomAD v4: 12-4911996-C-T
• MyVariant Identifiers: chr12:g.5021162C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4911996C>T , CM000674.2:g.4911996C>T	GRCh38
NC_000012.11:g.5021162C>T , CM000674.1:g.5021162C>T	GRCh37
NC_000012.10:g.4891423C>T	NCBI36
NG_011815.1:g.7090C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382545.5:c.618C>T MANE Select	ENSP00000371985.3:p.Asp206=
ENST00000543874.3:n.105+1524C>T
ENST00000639306.1:c.456C>T	ENSP00000492506.1:p.Asp152=
ENST00000382545.3:c.618C>T	ENSP00000371985.3:p.Asp206=
ENST00000541095.1:n.105+1524C>T
ENST00000543874.2:n.96+1524C>T
NM_000217.2:c.618C>T	NP_000208.2:p.Asp206=
NM_000217.3:c.618C>T MANE Select	NP_000208.2:p.Asp206=