Canonical Allele Identifier: CA383464692
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1961716
ClinVar RCV Id: RCV002720886
MyVariant Identifiers: chr12:g.5153876C>G (hg19) chr12:g.5044710C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044710C>G , CM000674.2:g.5044710C>G GRCh38
NC_000012.11:g.5153876C>G , CM000674.1:g.5153876C>G GRCh37
NC_000012.10:g.5024137C>G NCBI36
NG_012198.1:g.5792C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.563C>G MANE Select ENSP00000252321.3:p.Pro188Arg
ENST00000252321.4:c.563C>G ENSP00000252321.3:p.Pro188Arg
NM_002234.3:c.563C>G NP_002225.2:p.Pro188Arg
NM_002234.4:c.563C>G MANE Select NP_002225.2:p.Pro188Arg
Search 100 bp 5'
Search 100 bp 3'