Canonical Allele Identifier: CA119835
Gene: KCNJ11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8680
dbSNP Id: rs80356620

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387593T>G , CM000673.2:g.17387593T>G GRCh38
NC_000011.9:g.17409140T>G , CM000673.1:g.17409140T>G GRCh37
NC_000011.8:g.17365716T>G NCBI36
NG_012446.1:g.6067A>C

Transcript Alleles

HGVS Amino-acid change
NM_000525.3:c.499A>C VV NP_000516.3:p.Ile167Leu
NM_001166290.1:c.238A>C VV NP_001159762.1:p.Ile80Leu
XM_006718226.2:c.238A>C XP_006718289.1:p.Ile80Leu
XR_930867.1:n.657A>C
XM_006718226.3:c.238A>C XP_006718289.1:p.Ile80Leu
XM_017017680.1:c.238A>C XP_016873169.1:p.Ile80Leu
ENST00000339994.4:c.499A>C ENSP00000345708.4:p.Ile167Leu
ENST00000526912.1:c.238A>C ENSP00000432729.1:p.Ile80Leu
ENST00000528731.1:c.238A>C ENSP00000434755.1:p.Ile80Leu