Canonical Allele Identifier: CA6399551
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 957629
ClinVar RCV Id: RCV001230636
dbSNP Id: rs768347248
ExAC: 12:5153469 G / T
gnomAD v2: 12-5153469-G-T
gnomAD v4: 12-5044303-G-T
MyVariant Identifiers: chr12:g.5153469G>T (hg19) chr12:g.5044303G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044303G>T , CM000674.2:g.5044303G>T GRCh38
NC_000012.11:g.5153469G>T , CM000674.1:g.5153469G>T GRCh37
NC_000012.10:g.5023730G>T NCBI36
NG_012198.1:g.5385G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.156G>T MANE Select ENSP00000252321.3:p.Lys52Asn
ENST00000252321.4:c.156G>T ENSP00000252321.3:p.Lys52Asn
NM_002234.3:c.156G>T NP_002225.2:p.Lys52Asn
NM_002234.4:c.156G>T MANE Select NP_002225.2:p.Lys52Asn
Search 100 bp 5'
Search 100 bp 3'