Canonical Allele Identifier: CA6399836
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs756627134
ExAC: 12:5154566 A / G
gnomAD v2: 12-5154566-A-G
gnomAD v4: 12-5045400-A-G
MyVariant Identifiers: chr12:g.5154566A>G (hg19) chr12:g.5045400A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045400A>G , CM000674.2:g.5045400A>G GRCh38
NC_000012.11:g.5154566A>G , CM000674.1:g.5154566A>G GRCh37
NC_000012.10:g.5024827A>G NCBI36
NG_012198.1:g.6482A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1253A>G MANE Select ENSP00000252321.3:p.Lys418Arg
ENST00000252321.4:c.1253A>G ENSP00000252321.3:p.Lys418Arg
NM_002234.3:c.1253A>G NP_002225.2:p.Lys418Arg
NM_002234.4:c.1253A>G MANE Select NP_002225.2:p.Lys418Arg
Search 100 bp 5'
Search 100 bp 3'