Canonical Allele Identifier: CA379771412
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1679515
ClinVar RCV Id: RCV002227394

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387395G>T , CM000673.2:g.17387395G>T GRCh38
NC_000011.9:g.17408942G>T , CM000673.1:g.17408942G>T GRCh37
NC_000011.8:g.17365518G>T NCBI36
NG_012446.1:g.6265C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.436C>A ENSP00000508090.1:p.Leu146Ile
ENST00000682764.1:c.436C>A ENSP00000506780.1:p.Leu146Ile
ENST00000339994.5:c.697C>A MANE Select ENSP00000345708.4:p.Leu233Ile
ENST00000339994.4:c.697C>A ENSP00000345708.4:p.Leu233Ile
ENST00000526912.1:c.436C>A ENSP00000432729.1:p.Leu146Ile
ENST00000528731.1:c.436C>A ENSP00000434755.1:p.Leu146Ile
NM_000525.3:c.697C>A NP_000516.3:p.Leu233Ile
NM_001166290.1:c.436C>A NP_001159762.1:p.Leu146Ile
XM_006718226.2:c.436C>A XP_006718289.1:p.Leu146Ile
XR_930867.1:n.855C>A
XM_006718226.3:c.436C>A XP_006718289.1:p.Leu146Ile
XM_017017680.1:c.436C>A XP_016873169.1:p.Leu146Ile
NM_001166290.2:c.436C>A NP_001159762.1:p.Leu146Ile
NM_001377296.1:c.436C>A NP_001364225.1:p.Leu146Ile
NM_001377297.1:c.436C>A NP_001364226.1:p.Leu146Ile
NM_000525.4:c.697C>A MANE Select NP_000516.3:p.Leu233Ile