Canonical Allele Identifier: CA119831
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8678
dbSNP Id: rs5219

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17388025T>C , CM000673.2:g.17388025T>C GRCh38
NC_000011.9:g.17409572T>C , CM000673.1:g.17409572T>C GRCh37
NC_000011.8:g.17366148T>C NCBI36
NG_012446.1:g.5635A>G

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.67A>G VV NP_000516.3:p.Lys23Glu
NM_001166290.1:c.-16-179A>G VV NP_001159762.1:p.=
XM_006718226.2:c.-16-179A>G XP_006718289.1:p.=
XR_930867.1:n.225A>G
XM_006718226.3:c.-16-179A>G XP_006718289.1:p.=
XM_017017680.1:c.-16-179A>G XP_016873169.1:p.=
ENST00000339994.4:c.67A>G ENSP00000345708.4:p.Lys23Glu
ENST00000526912.1:c.-24A>G ENSP00000432729.1:p.=
ENST00000528731.1:c.-16-179A>G ENSP00000434755.1:p.=
ENST00000528992.1:n.84A>G