Canonical Allele Identifier: CA383464697
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2257200
ClinVar RCV Id: RCV002782729
MyVariant Identifiers: chr12:g.5153879T>C (hg19) chr12:g.5044713T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044713T>C , CM000674.2:g.5044713T>C GRCh38
NC_000012.11:g.5153879T>C , CM000674.1:g.5153879T>C GRCh37
NC_000012.10:g.5024140T>C NCBI36
NG_012198.1:g.5795T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.566T>C MANE Select ENSP00000252321.3:p.Val189Ala
ENST00000252321.4:c.566T>C ENSP00000252321.3:p.Val189Ala
NM_002234.3:c.566T>C NP_002225.2:p.Val189Ala
NM_002234.4:c.566T>C MANE Select NP_002225.2:p.Val189Ala
Search 100 bp 5'
Search 100 bp 3'