Canonical Allele Identifier: CA379769688
Gene: KCNJ11 HGNC NCBI

Linked Data

dbSNP Id: rs1197405390

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387143G>T , CM000673.2:g.17387143G>T GRCh38
NC_000011.9:g.17408690G>T , CM000673.1:g.17408690G>T GRCh37
NC_000011.8:g.17365266G>T NCBI36
NG_012446.1:g.6517C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.688C>A ENSP00000508090.1:p.Pro230Thr
ENST00000682764.1:c.688C>A ENSP00000506780.1:p.Pro230Thr
ENST00000339994.5:c.949C>A MANE Select ENSP00000345708.4:p.Pro317Thr
ENST00000339994.4:c.949C>A ENSP00000345708.4:p.Pro317Thr
ENST00000528731.1:c.688C>A ENSP00000434755.1:p.Pro230Thr
NM_000525.3:c.949C>A NP_000516.3:p.Pro317Thr
NM_001166290.1:c.688C>A NP_001159762.1:p.Pro230Thr
XM_006718226.2:c.688C>A XP_006718289.1:p.Pro230Thr
XR_930867.1:n.1107C>A
XM_006718226.3:c.688C>A XP_006718289.1:p.Pro230Thr
XM_017017680.1:c.688C>A XP_016873169.1:p.Pro230Thr
NM_001166290.2:c.688C>A NP_001159762.1:p.Pro230Thr
NM_001377296.1:c.688C>A NP_001364225.1:p.Pro230Thr
NM_001377297.1:c.688C>A NP_001364226.1:p.Pro230Thr
NM_000525.4:c.949C>A MANE Select NP_000516.3:p.Pro317Thr