Canonical Allele Identifier: CA478094282

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 2795621
• ClinVar RCV Id: RCV003627620
• MyVariant Identifiers: chr12:g.5020922C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4911756C>T , CM000674.2:g.4911756C>T	GRCh38
NC_000012.11:g.5020922C>T , CM000674.1:g.5020922C>T	GRCh37
NC_000012.10:g.4891183C>T	NCBI36
NG_011815.1:g.6850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.378C>T MANE Select	ENSP00000371985.3:p.Ala126=
ENST00000543874.3:n.105+1284C>T
ENST00000639306.1:c.216C>T	ENSP00000492506.1:p.Ala72=
ENST00000382545.3:c.378C>T	ENSP00000371985.3:p.Ala126=
ENST00000541095.1:n.105+1284C>T
ENST00000543874.2:n.96+1284C>T
NM_000217.2:c.378C>T	NP_000208.2:p.Ala126=
NM_000217.3:c.378C>T MANE Select	NP_000208.2:p.Ala126=