Canonical Allele Identifier: CA383467025
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2057725
ClinVar RCV Id: RCV002914932
dbSNP Id: rs1259756982
gnomAD v3: 12-5045840-A-C
gnomAD v4: 12-5045840-A-C
MyVariant Identifiers: chr12:g.5155006A>C (hg19) chr12:g.5045840A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045840A>C , CM000674.2:g.5045840A>C GRCh38
NC_000012.11:g.5155006A>C , CM000674.1:g.5155006A>C GRCh37
NC_000012.10:g.5025267A>C NCBI36
NG_012198.1:g.6922A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1693A>C MANE Select ENSP00000252321.3:p.Lys565Gln
ENST00000252321.4:c.1693A>C ENSP00000252321.3:p.Lys565Gln
NM_002234.3:c.1693A>C NP_002225.2:p.Lys565Gln
NM_002234.4:c.1693A>C MANE Select NP_002225.2:p.Lys565Gln
Search 100 bp 5'
Search 100 bp 3'