Canonical Allele Identifier: CA10641594

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 309204
• ClinVar RCV Id: RCV000294129 ; RCV000400828 ; RCV003326403
• dbSNP Id: rs535813845
• gnomAD v2: 12-5025620-T-C
• gnomAD v3: 12-4916454-T-C
• gnomAD v4: 12-4916454-T-C
• MyVariant Identifiers: chr12:g.5025620T>C (hg19) ; chr12:g.4916454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4916454T>C , CM000674.2:g.4916454T>C	GRCh38
NC_000012.11:g.5025620T>C , CM000674.1:g.5025620T>C	GRCh37
NC_000012.10:g.4895881T>C	NCBI36
NG_011815.1:g.11548T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.*3588T>C MANE Select	ENSP00000371985.3:n.*3588T>C
ENST00000543874.3:n.106-1332T>C
ENST00000639306.1:c.2184-1332T>C	ENSP00000492506.1:n.2184-1332T>C
ENST00000639680.1:c.160-1332T>C
ENST00000382545.3:c.*3588T>C	ENSP00000371985.3:n.*3588T>C
ENST00000541095.1:n.105+5982T>C
ENST00000543874.2:n.97-1332T>C
NM_000217.2:c.*3588T>C	NP_000208.2:n.*3588T>C
NM_000217.3:c.*3588T>C MANE Select	NP_000208.2:n.*3588T>C