Canonical Allele Identifier: CA383464690
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1408883560
gnomAD v2: 12-5153876-C-A
gnomAD v4: 12-5044710-C-A
MyVariant Identifiers: chr12:g.5153876C>A (hg19) chr12:g.5044710C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.563C>A MANE Select ENSP00000252321.3:p.Pro188Gln
ENST00000252321.4:c.563C>A ENSP00000252321.3:p.Pro188Gln
NM_002234.3:c.563C>A NP_002225.2:p.Pro188Gln
NM_002234.4:c.563C>A MANE Select NP_002225.2:p.Pro188Gln
Search 100 bp 5'
Search 100 bp 3'