Canonical Allele Identifier: CA383455035
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1947355262
MyVariant Identifiers: chr12:g.5021196A>G (hg19) chr12:g.4912030A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912030A>G , CM000674.2:g.4912030A>G GRCh38
NC_000012.11:g.5021196A>G , CM000674.1:g.5021196A>G GRCh37
NC_000012.10:g.4891457A>G NCBI36
NG_011815.1:g.7124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.652A>G MANE Select ENSP00000371985.3:p.Thr218Ala
ENST00000543874.3:n.105+1558A>G
ENST00000639306.1:c.490A>G ENSP00000492506.1:p.Thr164Ala
ENST00000382545.3:c.652A>G ENSP00000371985.3:p.Thr218Ala
ENST00000541095.1:n.105+1558A>G
ENST00000543874.2:n.96+1558A>G
NM_000217.2:c.652A>G NP_000208.2:p.Thr218Ala
NM_000217.3:c.652A>G MANE Select NP_000208.2:p.Thr218Ala
Search 100 bp 5'
Search 100 bp 3'