Canonical Allele Identifier: CA123124
Gene: KCNA5 HGNC NCBI
ClinVar RCV:
RCV000014412
RCV000295612
ClinVar Variation:
13470
dbSNP:
121908591
gnomAD v2:
12:5154893 C / T
gnomAD v3:
12:5045727 C / T
gnomAD v4:
chr12-5045727-C-T
Joint Max Group AF 0.00158946 (EAS)
Genomes Max Group AF 0.00119268 (EAS)
Exomes Max Group AF 0.00154496 (EAS)
MyVariant.info:
GRCh38 chr12:g.5045727C>T
GRCh37 chr12:g.5154893C>T
Revel Score:
ENST00000252321 (MANE Select) 0.942
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045727C>T , CM000674.2:g.5045727C>T GRCh38
NC_000012.11:g.5154893C>T , CM000674.1:g.5154893C>T GRCh37
NC_000012.10:g.5025154C>T NCBI36
NG_012198.1:g.6809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1580C>T MANE Select ENSP00000252321.3:p.Thr527Met
ENST00000252321.4:c.1580C>T ENSP00000252321.3:p.Thr527Met
NM_002234.3:c.1580C>T NP_002225.2:p.Thr527Met
NM_002234.4:c.1580C>T MANE Select NP_002225.2:p.Thr527Met
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