Canonical Allele Identifier: CA10634186
Gene: KCNJ11 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.17386543G>A
GRCh37 chr11:g.17408090G>A
gnomAD v2:
11:17408090 G / A
gnomAD v3:
11:17386543 G / A
gnomAD v4:
chr11-17386543-G-A
Joint Max Group AF 0.03470716 (AFR)
Genomes Max Group AF 0.03521735 (AFR)
Exomes Max Group AF 0.02208484 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386543G>A , CM000673.2:g.17386543G>A GRCh38
NC_000011.9:g.17408090G>A , CM000673.1:g.17408090G>A GRCh37
NC_000011.8:g.17364666G>A NCBI36
NG_012446.1:g.7117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.*376C>T ENSP00000508090.1:n.*376C>T
ENST00000682764.1:c.*50+326C>T ENSP00000506780.1:n.*50+326C>T
ENST00000339994.5:c.*376C>T MANE Select ENSP00000345708.4:n.*376C>T
ENST00000339994.4:c.*376C>T ENSP00000345708.4:n.*376C>T
ENST00000526747.1:n.168+40C>T
ENST00000528731.1:c.*376C>T ENSP00000434755.1:n.*376C>T
NM_000525.3:c.*376C>T NP_000516.3:n.*376C>T
NM_001166290.1:c.*376C>T NP_001159762.1:n.*376C>T
XM_006718226.2:c.*376C>T XP_006718289.1:n.*376C>T
XR_930867.1:n.1381+326C>T
XM_006718226.3:c.*376C>T XP_006718289.1:n.*376C>T
XM_017017680.1:c.*376C>T XP_016873169.1:n.*376C>T
NM_001166290.2:c.*376C>T NP_001159762.1:n.*376C>T
NM_001377296.1:c.*376C>T NP_001364225.1:n.*376C>T
NM_001377297.1:c.*376C>T NP_001364226.1:n.*376C>T
NM_000525.4:c.*376C>T MANE Select NP_000516.3:n.*376C>T
Search 100 bp 5'
Search 100 bp 3'