Canonical Allele Identifier: CA6358001
Gene: KCNJ5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.128916595G>A
GRCh37 chr11:g.128786490G>A
Revel Score:
ENST00000529694 (MANE Select) 0.219
ENST00000338350 0.219
ENST00000533599 0.219
gnomAD v2:
11:128786490 G / A
gnomAD v3:
11:128916595 G / A
gnomAD v4:
chr11-128916595-G-A
Joint Max Group AF 0.00011193 (AFR)
Genomes Max Group AF 0.00007875 (AFR)
Exomes Max Group AF 0.00009791 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128916595G>A , CM000673.2:g.128916595G>A GRCh38
NC_000011.9:g.128786490G>A , CM000673.1:g.128786490G>A GRCh37
NC_000011.8:g.128291700G>A NCBI36
NG_023406.2:g.30178G>A , LRG_333:g.30178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.1124G>A MANE Select ENSP00000433295.1:p.Arg375Gln
ENST00000338350.4:c.1124G>A ENSP00000339960.4:p.Arg375Gln
ENST00000529694.5:c.1124G>A ENSP00000433295.1:p.Arg375Gln
ENST00000533599.1:c.1124G>A ENSP00000434266.1:p.Arg375Gln
NM_000890.3:c.1124G>A , LRG_333t1:c.1124G>A NP_000881.3:p.Arg375Gln
XM_011542809.1:c.1124G>A XP_011541111.1:p.Arg375Gln
XM_011542810.1:c.1124G>A XP_011541112.1:p.Arg375Gln
NM_000890.4:c.1124G>A NP_000881.3:p.Arg375Gln
NM_001354169.1:c.1124G>A NP_001341098.1:p.Arg375Gln
XM_011542809.2:c.1124G>A XP_011541111.1:p.Arg375Gln
XM_011542810.3:c.1124G>A XP_011541112.1:p.Arg375Gln
NM_000890.5:c.1124G>A MANE Select NP_000881.3:p.Arg375Gln
NM_001354169.2:c.1124G>A NP_001341098.1:p.Arg375Gln
Search 100 bp 5'
Search 100 bp 3'