Canonical Allele Identifier: CA6399746
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051622
ClinVar RCV Id: RCV001359688
dbSNP Id: rs773608258
ExAC: 12:5154210 C / G
gnomAD v2: 12-5154210-C-G
gnomAD v4: 12-5045044-C-G
MyVariant Identifiers: chr12:g.5154210C>G (hg19) chr12:g.5045044C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045044C>G , CM000674.2:g.5045044C>G GRCh38
NC_000012.11:g.5154210C>G , CM000674.1:g.5154210C>G GRCh37
NC_000012.10:g.5024471C>G NCBI36
NG_012198.1:g.6126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.897C>G MANE Select ENSP00000252321.3:p.Asn299Lys
ENST00000252321.4:c.897C>G ENSP00000252321.3:p.Asn299Lys
NM_002234.3:c.897C>G NP_002225.2:p.Asn299Lys
NM_002234.4:c.897C>G MANE Select NP_002225.2:p.Asn299Lys
Search 100 bp 5'
Search 100 bp 3'