Canonical Allele Identifier: CA383465316
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045013-A-G
COSMIC: COSM266743
MyVariant Identifiers: chr12:g.5154179A>G (hg19) chr12:g.5045013A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045013A>G , CM000674.2:g.5045013A>G GRCh38
NC_000012.11:g.5154179A>G , CM000674.1:g.5154179A>G GRCh37
NC_000012.10:g.5024440A>G NCBI36
NG_012198.1:g.6095A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.866A>G MANE Select ENSP00000252321.3:p.His289Arg
ENST00000252321.4:c.866A>G ENSP00000252321.3:p.His289Arg
NM_002234.3:c.866A>G NP_002225.2:p.His289Arg
NM_002234.4:c.866A>G MANE Select NP_002225.2:p.His289Arg
Search 100 bp 5'
Search 100 bp 3'