Canonical Allele Identifier: CA6399874
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1137412
ClinVar RCV Id: RCV001473416
dbSNP Id: rs764615241
ExAC: 12:5154798 C / A
gnomAD v2: 12-5154798-C-A
gnomAD v3: 12-5045632-C-A
gnomAD v4: 12-5045632-C-A
MyVariant Identifiers: chr12:g.5154798C>A (hg19) chr12:g.5045632C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045632C>A , CM000674.2:g.5045632C>A GRCh38
NC_000012.11:g.5154798C>A , CM000674.1:g.5154798C>A GRCh37
NC_000012.10:g.5025059C>A NCBI36
NG_012198.1:g.6714C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1485C>A MANE Select ENSP00000252321.3:p.Ile495=
ENST00000252321.4:c.1485C>A ENSP00000252321.3:p.Ile495=
NM_002234.3:c.1485C>A NP_002225.2:p.Ile495=
NM_002234.4:c.1485C>A MANE Select NP_002225.2:p.Ile495=
Search 100 bp 5'
Search 100 bp 3'