Canonical Allele Identifier: CA383465613
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1282744226
gnomAD v2: 12-5154337-C-T
gnomAD v4: 12-5045171-C-T
MyVariant Identifiers: chr12:g.5154337C>T (hg19) chr12:g.5045171C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045171C>T , CM000674.2:g.5045171C>T GRCh38
NC_000012.11:g.5154337C>T , CM000674.1:g.5154337C>T GRCh37
NC_000012.10:g.5024598C>T NCBI36
NG_012198.1:g.6253C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1024C>T MANE Select ENSP00000252321.3:p.Arg342Cys
ENST00000252321.4:c.1024C>T ENSP00000252321.3:p.Arg342Cys
NM_002234.3:c.1024C>T NP_002225.2:p.Arg342Cys
NM_002234.4:c.1024C>T MANE Select NP_002225.2:p.Arg342Cys
Search 100 bp 5'
Search 100 bp 3'