Canonical Allele Identifier: CA6399740
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1585885
ClinVar RCV Id: RCV002097853
dbSNP Id: rs745404558
ExAC: 12:5154183 G / A
gnomAD v2: 12-5154183-G-A
gnomAD v3: 12-5045017-G-A
gnomAD v4: 12-5045017-G-A
MyVariant Identifiers: chr12:g.5154183G>A (hg19) chr12:g.5045017G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045017G>A , CM000674.2:g.5045017G>A GRCh38
NC_000012.11:g.5154183G>A , CM000674.1:g.5154183G>A GRCh37
NC_000012.10:g.5024444G>A NCBI36
NG_012198.1:g.6099G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.870G>A MANE Select ENSP00000252321.3:p.Gln290=
ENST00000252321.4:c.870G>A ENSP00000252321.3:p.Gln290=
NM_002234.3:c.870G>A NP_002225.2:p.Gln290=
NM_002234.4:c.870G>A MANE Select NP_002225.2:p.Gln290=
Search 100 bp 5'
Search 100 bp 3'