Canonical Allele Identifier: CA14992687
Gene: KCNJ4 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.38426693C>T
GRCh37 chr22:g.38822698C>T
gnomAD v2:
22:38822698 C / T
gnomAD v3:
22:38426693 C / T
gnomAD v4:
chr22-38426693-C-T
Joint Max Group AF 0.22497438 (EAS)
Genomes Max Group AF 0.21710813 (EAS)
Exomes Max Group AF 0.22483597 (EAS)
ClinVar Allele:
1273193
ClinVar RCV:
RCV001693950
ClinVar Variation:
1281966
dbSNP:
1063134
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38426693C>T , CM000684.2:g.38426693C>T GRCh38
NC_000022.10:g.38822698C>T , CM000684.1:g.38822698C>T GRCh37
NC_000022.9:g.37152644C>T NCBI36
NG_050625.1:g.33507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303592.3:c.*102G>A MANE Select ENSP00000306497.3:n.*102G>A
NM_004981.1:c.*102G>A NP_004972.1:n.*102G>A
NM_152868.2:c.*102G>A NP_690607.1:n.*102G>A
XR_938252.1:n.309+1721C>T
XR_938252.2:n.313+1721C>T
NM_152868.3:c.*102G>A MANE Select NP_690607.1:n.*102G>A
NM_004981.2:c.*102G>A NP_004972.1:n.*102G>A
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