Canonical Allele Identifier: CA915947829
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 806777
ClinVar RCV Id: RCV000994781
dbSNP Id: rs1591661060

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044242dup , CM000674.2:g.5044242dup GRCh38
NC_000012.11:g.5153408dup , CM000674.1:g.5153408dup GRCh37
NC_000012.10:g.5023669dup NCBI36
NG_012198.1:g.5324dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.95dup MANE Select ENSP00000252321.3:p.Glu33ArgfsTer?
ENST00000252321.4:c.95dup ENSP00000252321.3:p.Glu33ArgfsTer?
NM_002234.3:c.95dup NP_002225.2:p.Glu33ArgfsTer?
NM_002234.4:c.95dup MANE Select NP_002225.2:p.Glu33ArgfsTer?