Canonical Allele Identifier: CA383455038
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 955267
ClinVar RCV Id: RCV001227873
dbSNP Id: rs1280516411
gnomAD v2: 12-5021197-C-G
gnomAD v4: 12-4912031-C-G
MyVariant Identifiers: chr12:g.5021197C>G (hg19) chr12:g.4912031C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912031C>G , CM000674.2:g.4912031C>G GRCh38
NC_000012.11:g.5021197C>G , CM000674.1:g.5021197C>G GRCh37
NC_000012.10:g.4891458C>G NCBI36
NG_011815.1:g.7125C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.653C>G MANE Select ENSP00000371985.3:p.Thr218Arg
ENST00000543874.3:n.105+1559C>G
ENST00000639306.1:c.491C>G ENSP00000492506.1:p.Thr164Arg
ENST00000382545.3:c.653C>G ENSP00000371985.3:p.Thr218Arg
ENST00000541095.1:n.105+1559C>G
ENST00000543874.2:n.96+1559C>G
NM_000217.2:c.653C>G NP_000208.2:p.Thr218Arg
NM_000217.3:c.653C>G MANE Select NP_000208.2:p.Thr218Arg
Search 100 bp 5'
Search 100 bp 3'