Canonical Allele Identifier: CA473515611
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1645615
ClinVar RCV Id: RCV002148605

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387393G>C , CM000673.2:g.17387393G>C GRCh38
NC_000011.9:g.17408940G>C , CM000673.1:g.17408940G>C GRCh37
NC_000011.8:g.17365516G>C NCBI36
NG_012446.1:g.6267C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.438C>G ENSP00000508090.1:p.Leu146=
ENST00000682764.1:c.438C>G ENSP00000506780.1:p.Leu146=
ENST00000339994.5:c.699C>G MANE Select ENSP00000345708.4:p.Leu233=
ENST00000339994.4:c.699C>G ENSP00000345708.4:p.Leu233=
ENST00000526912.1:c.438C>G ENSP00000432729.1:p.Leu146=
ENST00000528731.1:c.438C>G ENSP00000434755.1:p.Leu146=
NM_000525.3:c.699C>G NP_000516.3:p.Leu233=
NM_001166290.1:c.438C>G NP_001159762.1:p.Leu146=
XM_006718226.2:c.438C>G XP_006718289.1:p.Leu146=
XR_930867.1:n.857C>G
XM_006718226.3:c.438C>G XP_006718289.1:p.Leu146=
XM_017017680.1:c.438C>G XP_016873169.1:p.Leu146=
NM_001166290.2:c.438C>G NP_001159762.1:p.Leu146=
NM_001377296.1:c.438C>G NP_001364225.1:p.Leu146=
NM_001377297.1:c.438C>G NP_001364226.1:p.Leu146=
NM_000525.4:c.699C>G MANE Select NP_000516.3:p.Leu233=