Canonical Allele Identifier: CA6399935
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 537311
ClinVar RCV Id: RCV000646131 RCV002285167
dbSNP Id: rs139805781
ExAC: 12:5155043 G / A
gnomAD v2: 12-5155043-G-A
gnomAD v3: 12-5045877-G-A
gnomAD v4: 12-5045877-G-A
COSMIC: COSM1299508
MyVariant Identifiers: chr12:g.5155043G>A (hg19) chr12:g.5045877G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045877G>A , CM000674.2:g.5045877G>A GRCh38
NC_000012.11:g.5155043G>A , CM000674.1:g.5155043G>A GRCh37
NC_000012.10:g.5025304G>A NCBI36
NG_012198.1:g.6959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1730G>A MANE Select ENSP00000252321.3:p.Arg577Gln
ENST00000252321.4:c.1730G>A ENSP00000252321.3:p.Arg577Gln
NM_002234.3:c.1730G>A NP_002225.2:p.Arg577Gln
NM_002234.4:c.1730G>A MANE Select NP_002225.2:p.Arg577Gln
Search 100 bp 5'
Search 100 bp 3'