Canonical Allele Identifier: CA379770793
Gene: KCNJ11 HGNC NCBI
ClinVar RCV:
RCV003991233
ClinVar Variation:
3066229
dbSNP:
1953577440
gnomAD v3:
11:17387310 A / G
gnomAD v4:
chr11-17387310-A-G
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr11:g.17387310A>G
GRCh37 chr11:g.17408857A>G
Revel Score:
ENST00000339994 (MANE Select) 0.936
ENST00000528731 0.936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387310A>G , CM000673.2:g.17387310A>G GRCh38
NC_000011.9:g.17408857A>G , CM000673.1:g.17408857A>G GRCh37
NC_000011.8:g.17365433A>G NCBI36
NG_012446.1:g.6350T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.521T>C ENSP00000508090.1:p.Ile174Thr
ENST00000682764.1:c.521T>C ENSP00000506780.1:p.Ile174Thr
ENST00000339994.5:c.782T>C MANE Select ENSP00000345708.4:p.Ile261Thr
ENST00000339994.4:c.782T>C ENSP00000345708.4:p.Ile261Thr
ENST00000528731.1:c.521T>C ENSP00000434755.1:p.Ile174Thr
NM_000525.3:c.782T>C NP_000516.3:p.Ile261Thr
NM_001166290.1:c.521T>C NP_001159762.1:p.Ile174Thr
XM_006718226.2:c.521T>C XP_006718289.1:p.Ile174Thr
XR_930867.1:n.940T>C
XM_006718226.3:c.521T>C XP_006718289.1:p.Ile174Thr
XM_017017680.1:c.521T>C XP_016873169.1:p.Ile174Thr
NM_001166290.2:c.521T>C NP_001159762.1:p.Ile174Thr
NM_001377296.1:c.521T>C NP_001364225.1:p.Ile174Thr
NM_001377297.1:c.521T>C NP_001364226.1:p.Ile174Thr
NM_000525.4:c.782T>C MANE Select NP_000516.3:p.Ile261Thr
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