Canonical Allele Identifier: CA379771407
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 617651
ClinVar RCV Id: RCV000754813

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.436C>T ENSP00000508090.1:p.Leu146Phe
ENST00000682764.1:c.436C>T ENSP00000506780.1:p.Leu146Phe
ENST00000339994.5:c.697C>T MANE Select ENSP00000345708.4:p.Leu233Phe
ENST00000339994.4:c.697C>T ENSP00000345708.4:p.Leu233Phe
ENST00000526912.1:c.436C>T ENSP00000432729.1:p.Leu146Phe
ENST00000528731.1:c.436C>T ENSP00000434755.1:p.Leu146Phe
NM_000525.3:c.697C>T NP_000516.3:p.Leu233Phe
NM_001166290.1:c.436C>T NP_001159762.1:p.Leu146Phe
XM_006718226.2:c.436C>T XP_006718289.1:p.Leu146Phe
XR_930867.1:n.855C>T
XM_006718226.3:c.436C>T XP_006718289.1:p.Leu146Phe
XM_017017680.1:c.436C>T XP_016873169.1:p.Leu146Phe
NM_001166290.2:c.436C>T NP_001159762.1:p.Leu146Phe
NM_001377296.1:c.436C>T NP_001364225.1:p.Leu146Phe
NM_001377297.1:c.436C>T NP_001364226.1:p.Leu146Phe
NM_000525.4:c.697C>T MANE Select NP_000516.3:p.Leu233Phe