Canonical Allele Identifier: CA478095907
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2763999
ClinVar RCV Id: RCV003515860
gnomAD v4: 12-5045893-C-T
MyVariant Identifiers: chr12:g.5155059C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045893C>T , CM000674.2:g.5045893C>T GRCh38
NC_000012.11:g.5155059C>T , CM000674.1:g.5155059C>T GRCh37
NC_000012.10:g.5025320C>T NCBI36
NG_012198.1:g.6975C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1746C>T MANE Select ENSP00000252321.3:p.Pro582=
ENST00000252321.4:c.1746C>T ENSP00000252321.3:p.Pro582=
NM_002234.3:c.1746C>T NP_002225.2:p.Pro582=
NM_002234.4:c.1746C>T MANE Select NP_002225.2:p.Pro582=
Search 100 bp 5'
Search 100 bp 3'