Canonical Allele Identifier: CA944256437
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1862766305
gnomAD v3: 12-5045476-C-CG
gnomAD v4: 12-5045476-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045480dup , CM000674.2:g.5045480dup GRCh38
NC_000012.11:g.5154646dup , CM000674.1:g.5154646dup GRCh37
NC_000012.10:g.5024907dup NCBI36
NG_012198.1:g.6562dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1333dup MANE Select ENSP00000252321.3:p.Val445GlyfsTer14
ENST00000252321.4:c.1333dup ENSP00000252321.3:p.Val445GlyfsTer14
NM_002234.3:c.1333dup NP_002225.2:p.Val445GlyfsTer14
NM_002234.4:c.1333dup MANE Select NP_002225.2:p.Val445GlyfsTer14
Search 100 bp 5'
Search 100 bp 3'