Canonical Allele Identifier: CA383465504
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1862760482
gnomAD v3: 12-5045119-C-A
gnomAD v4: 12-5045119-C-A
MyVariant Identifiers: chr12:g.5154285C>A (hg19) chr12:g.5045119C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045119C>A , CM000674.2:g.5045119C>A GRCh38
NC_000012.11:g.5154285C>A , CM000674.1:g.5154285C>A GRCh37
NC_000012.10:g.5024546C>A NCBI36
NG_012198.1:g.6201C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.972C>A MANE Select ENSP00000252321.3:p.Phe324Leu
ENST00000252321.4:c.972C>A ENSP00000252321.3:p.Phe324Leu
NM_002234.3:c.972C>A NP_002225.2:p.Phe324Leu
NM_002234.4:c.972C>A MANE Select NP_002225.2:p.Phe324Leu
Search 100 bp 5'
Search 100 bp 3'