Canonical Allele Identifier: CA10634188
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 303727
dbSNP Id: rs5210

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386704G>A , CM000673.2:g.17386704G>A GRCh38
NC_000011.9:g.17408251G>A , CM000673.1:g.17408251G>A GRCh37
NC_000011.8:g.17364827G>A NCBI36
NG_012446.1:g.6956C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.*215C>T ENSP00000508090.1:n.*215C>T
ENST00000682764.1:c.*50+165C>T ENSP00000506780.1:n.*50+165C>T
ENST00000339994.5:c.*215C>T MANE Select ENSP00000345708.4:n.*215C>T
ENST00000339994.4:c.*215C>T ENSP00000345708.4:n.*215C>T
ENST00000526747.1:n.47C>T
ENST00000528731.1:c.*215C>T ENSP00000434755.1:n.*215C>T
NM_000525.3:c.*215C>T NP_000516.3:n.*215C>T
NM_001166290.1:c.*215C>T NP_001159762.1:n.*215C>T
XM_006718226.2:c.*215C>T XP_006718289.1:n.*215C>T
XR_930867.1:n.1381+165C>T
XM_006718226.3:c.*215C>T XP_006718289.1:n.*215C>T
XM_017017680.1:c.*215C>T XP_016873169.1:n.*215C>T
NM_001166290.2:c.*215C>T NP_001159762.1:n.*215C>T
NM_001377296.1:c.*215C>T NP_001364225.1:n.*215C>T
NM_001377297.1:c.*215C>T NP_001364226.1:n.*215C>T
NM_000525.4:c.*215C>T MANE Select NP_000516.3:n.*215C>T