Canonical Allele Identifier: CA379773701
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387650T>G , CM000673.2:g.17387650T>G GRCh38
NC_000011.9:g.17409197T>G , CM000673.1:g.17409197T>G GRCh37
NC_000011.8:g.17365773T>G NCBI36
NG_012446.1:g.6010A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.214A>C ENSP00000436479.2:p.Ile72Leu
ENST00000682350.1:c.181A>C ENSP00000508090.1:p.Ile61Leu
ENST00000682764.1:c.181A>C ENSP00000506780.1:p.Ile61Leu
ENST00000339994.5:c.442A>C MANE Select ENSP00000345708.4:p.Ile148Leu
ENST00000339994.4:c.442A>C ENSP00000345708.4:p.Ile148Leu
ENST00000526912.1:c.181A>C ENSP00000432729.1:p.Ile61Leu
ENST00000528731.1:c.181A>C ENSP00000434755.1:p.Ile61Leu
ENST00000528992.1:c.459A>C
NM_000525.3:c.442A>C NP_000516.3:p.Ile148Leu
NM_001166290.1:c.181A>C NP_001159762.1:p.Ile61Leu
XM_006718226.2:c.181A>C XP_006718289.1:p.Ile61Leu
XR_930867.1:n.600A>C
XM_006718226.3:c.181A>C XP_006718289.1:p.Ile61Leu
XM_017017680.1:c.181A>C XP_016873169.1:p.Ile61Leu
NM_001166290.2:c.181A>C NP_001159762.1:p.Ile61Leu
NM_001377296.1:c.181A>C NP_001364225.1:p.Ile61Leu
NM_001377297.1:c.181A>C NP_001364226.1:p.Ile61Leu
NM_000525.4:c.442A>C MANE Select NP_000516.3:p.Ile148Leu