Canonical Allele Identifier: CA231867737
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1587556
ClinVar RCV Id: RCV002103378
dbSNP Id: rs1040705459
COSMIC: COSM128275
MyVariant Identifiers: chr12:g.5154057C>G (hg19) chr12:g.5044891C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044891C>G , CM000674.2:g.5044891C>G GRCh38
NC_000012.11:g.5154057C>G , CM000674.1:g.5154057C>G GRCh37
NC_000012.10:g.5024318C>G NCBI36
NG_012198.1:g.5973C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.744C>G MANE Select ENSP00000252321.3:p.Ser248=
ENST00000252321.4:c.744C>G ENSP00000252321.3:p.Ser248=
NM_002234.3:c.744C>G NP_002225.2:p.Ser248=
NM_002234.4:c.744C>G MANE Select NP_002225.2:p.Ser248=
Search 100 bp 5'
Search 100 bp 3'