Canonical Allele Identifier: CA5902330
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 447634
dbSNP Id: rs375848765

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387932G>A , CM000673.2:g.17387932G>A GRCh38
NC_000011.9:g.17409479G>A , CM000673.1:g.17409479G>A GRCh37
NC_000011.8:g.17366055G>A NCBI36
NG_012446.1:g.5728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.-69C>T ENSP00000436479.2:n.-69C>T
ENST00000682350.1:c.-16-86C>T ENSP00000508090.1:n.-16-86C>T
ENST00000682764.1:c.-16-86C>T ENSP00000506780.1:n.-16-86C>T
ENST00000339994.5:c.160C>T MANE Select ENSP00000345708.4:p.Arg54Cys
ENST00000339994.4:c.160C>T ENSP00000345708.4:p.Arg54Cys
ENST00000526912.1:c.-16-86C>T ENSP00000432729.1:n.-16-86C>T
ENST00000528731.1:c.-16-86C>T ENSP00000434755.1:n.-16-86C>T
ENST00000528992.1:c.177C>T
NM_000525.3:c.160C>T NP_000516.3:p.Arg54Cys
NM_001166290.1:c.-16-86C>T NP_001159762.1:n.-16-86C>T
XM_006718226.2:c.-16-86C>T XP_006718289.1:n.-16-86C>T
XR_930867.1:n.318C>T
XM_006718226.3:c.-16-86C>T XP_006718289.1:n.-16-86C>T
XM_017017680.1:c.-16-86C>T XP_016873169.1:n.-16-86C>T
NM_001166290.2:c.-16-86C>T NP_001159762.1:n.-16-86C>T
NM_001377296.1:c.-16-86C>T NP_001364225.1:n.-16-86C>T
NM_001377297.1:c.-16-86C>T NP_001364226.1:n.-16-86C>T
NM_000525.4:c.160C>T MANE Select NP_000516.3:p.Arg54Cys