Canonical Allele Identifier: CA379770011
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 847800
dbSNP Id: rs74339576

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387190C>G , CM000673.2:g.17387190C>G GRCh38
NC_000011.9:g.17408737C>G , CM000673.1:g.17408737C>G GRCh37
NC_000011.8:g.17365313C>G NCBI36
NG_012446.1:g.6470G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.641G>C ENSP00000508090.1:p.Arg214Pro
ENST00000682764.1:c.641G>C ENSP00000506780.1:p.Arg214Pro
ENST00000339994.5:c.902G>C MANE Select ENSP00000345708.4:p.Arg301Pro
ENST00000339994.4:c.902G>C ENSP00000345708.4:p.Arg301Pro
ENST00000528731.1:c.641G>C ENSP00000434755.1:p.Arg214Pro
NM_000525.3:c.902G>C NP_000516.3:p.Arg301Pro
NM_001166290.1:c.641G>C NP_001159762.1:p.Arg214Pro
XM_006718226.2:c.641G>C XP_006718289.1:p.Arg214Pro
XR_930867.1:n.1060G>C
XM_006718226.3:c.641G>C XP_006718289.1:p.Arg214Pro
XM_017017680.1:c.641G>C XP_016873169.1:p.Arg214Pro
NM_001166290.2:c.641G>C NP_001159762.1:p.Arg214Pro
NM_001377296.1:c.641G>C NP_001364225.1:p.Arg214Pro
NM_001377297.1:c.641G>C NP_001364226.1:p.Arg214Pro
NM_000525.4:c.902G>C MANE Select NP_000516.3:p.Arg301Pro