Canonical Allele Identifier: CA383465439
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1167570936
gnomAD v2: 12-5154247-G-A
gnomAD v3: 12-5045081-G-A
gnomAD v4: 12-5045081-G-A
COSMIC: COSM6137126
MyVariant Identifiers: chr12:g.5154247G>A (hg19) chr12:g.5045081G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045081G>A , CM000674.2:g.5045081G>A GRCh38
NC_000012.11:g.5154247G>A , CM000674.1:g.5154247G>A GRCh37
NC_000012.10:g.5024508G>A NCBI36
NG_012198.1:g.6163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.934G>A MANE Select ENSP00000252321.3:p.Val312Met
ENST00000252321.4:c.934G>A ENSP00000252321.3:p.Val312Met
NM_002234.3:c.934G>A NP_002225.2:p.Val312Met
NM_002234.4:c.934G>A MANE Select NP_002225.2:p.Val312Met
Search 100 bp 5'
Search 100 bp 3'