Canonical Allele Identifier: CA383455057
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4912040-T-G
MyVariant Identifiers: chr12:g.5021206T>G (hg19) chr12:g.4912040T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912040T>G , CM000674.2:g.4912040T>G GRCh38
NC_000012.11:g.5021206T>G , CM000674.1:g.5021206T>G GRCh37
NC_000012.10:g.4891467T>G NCBI36
NG_011815.1:g.7134T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.662T>G MANE Select ENSP00000371985.3:p.Phe221Cys
ENST00000543874.3:n.105+1568T>G
ENST00000639306.1:c.500T>G ENSP00000492506.1:p.Phe167Cys
ENST00000382545.3:c.662T>G ENSP00000371985.3:p.Phe221Cys
ENST00000541095.1:n.105+1568T>G
ENST00000543874.2:n.96+1568T>G
NM_000217.2:c.662T>G NP_000208.2:p.Phe221Cys
NM_000217.3:c.662T>G MANE Select NP_000208.2:p.Phe221Cys
Search 100 bp 5'
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