Canonical Allele Identifier: CA6399410
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs754350793
ExAC: 12:5021187 A / G
gnomAD v2: 12-5021187-A-G
gnomAD v4: 12-4912021-A-G
MyVariant Identifiers: chr12:g.5021187A>G (hg19) chr12:g.4912021A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912021A>G , CM000674.2:g.4912021A>G GRCh38
NC_000012.11:g.5021187A>G , CM000674.1:g.5021187A>G GRCh37
NC_000012.10:g.4891448A>G NCBI36
NG_011815.1:g.7115A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.643A>G MANE Select ENSP00000371985.3:p.Asn215Asp
ENST00000543874.3:n.105+1549A>G
ENST00000639306.1:c.481A>G ENSP00000492506.1:p.Asn161Asp
ENST00000382545.3:c.643A>G ENSP00000371985.3:p.Asn215Asp
ENST00000541095.1:n.105+1549A>G
ENST00000543874.2:n.96+1549A>G
NM_000217.2:c.643A>G NP_000208.2:p.Asn215Asp
NM_000217.3:c.643A>G MANE Select NP_000208.2:p.Asn215Asp
Search 100 bp 5'
Search 100 bp 3'