Canonical Allele Identifier: CA218400191
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303355
ClinVar RCV Id: RCV001757910
dbSNP Id: rs988002138

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17388006C>T , CM000673.2:g.17388006C>T GRCh38
NC_000011.9:g.17409553C>T , CM000673.1:g.17409553C>T GRCh37
NC_000011.8:g.17366129C>T NCBI36
NG_012446.1:g.5654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.-143G>A ENSP00000436479.2:n.-143G>A
ENST00000682350.1:c.-16-160G>A ENSP00000508090.1:n.-16-160G>A
ENST00000682764.1:c.-16-160G>A ENSP00000506780.1:n.-16-160G>A
ENST00000339994.5:c.86G>A MANE Select ENSP00000345708.4:p.Arg29His
ENST00000339994.4:c.86G>A ENSP00000345708.4:p.Arg29His
ENST00000526912.1:c.-17+12G>A ENSP00000432729.1:n.-17+12G>A
ENST00000528731.1:c.-16-160G>A ENSP00000434755.1:n.-16-160G>A
ENST00000528992.1:c.103G>A
NM_000525.3:c.86G>A NP_000516.3:p.Arg29His
NM_001166290.1:c.-16-160G>A NP_001159762.1:n.-16-160G>A
XM_006718226.2:c.-16-160G>A XP_006718289.1:n.-16-160G>A
XR_930867.1:n.244G>A
XM_006718226.3:c.-16-160G>A XP_006718289.1:n.-16-160G>A
XM_017017680.1:c.-16-160G>A XP_016873169.1:n.-16-160G>A
NM_001166290.2:c.-16-160G>A NP_001159762.1:n.-16-160G>A
NM_001377296.1:c.-17+12G>A NP_001364225.1:n.-17+12G>A
NM_001377297.1:c.-16-160G>A NP_001364226.1:n.-16-160G>A
NM_000525.4:c.86G>A MANE Select NP_000516.3:p.Arg29His