Canonical Allele Identifier: CA383456223
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021725T>G (hg19) chr12:g.4912559T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912559T>G , CM000674.2:g.4912559T>G GRCh38
NC_000012.11:g.5021725T>G , CM000674.1:g.5021725T>G GRCh37
NC_000012.10:g.4891986T>G NCBI36
NG_011815.1:g.7653T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1181T>G MANE Select ENSP00000371985.3:p.Ile394Ser
ENST00000543874.3:n.105+2087T>G
ENST00000639306.1:c.1019T>G ENSP00000492506.1:p.Ile340Ser
ENST00000639680.1:c.76+293T>G
ENST00000382545.3:c.1181T>G ENSP00000371985.3:p.Ile394Ser
ENST00000541095.1:n.105+2087T>G
ENST00000543874.2:n.96+2087T>G
NM_000217.2:c.1181T>G NP_000208.2:p.Ile394Ser
NM_000217.3:c.1181T>G MANE Select NP_000208.2:p.Ile394Ser
Search 100 bp 5'
Search 100 bp 3'