Canonical Allele Identifier: CA383467034
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1419581
ClinVar RCV Id: RCV001910463
dbSNP Id: rs2137773971
MyVariant Identifiers: chr12:g.5155009G>C (hg19) chr12:g.5045843G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045843G>C , CM000674.2:g.5045843G>C GRCh38
NC_000012.11:g.5155009G>C , CM000674.1:g.5155009G>C GRCh37
NC_000012.10:g.5025270G>C NCBI36
NG_012198.1:g.6925G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1696G>C MANE Select ENSP00000252321.3:p.Ala566Pro
ENST00000252321.4:c.1696G>C ENSP00000252321.3:p.Ala566Pro
NM_002234.3:c.1696G>C NP_002225.2:p.Ala566Pro
NM_002234.4:c.1696G>C MANE Select NP_002225.2:p.Ala566Pro
Search 100 bp 5'
Search 100 bp 3'