Canonical Allele Identifier: CA379776194
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387931C>A , CM000673.2:g.17387931C>A GRCh38
NC_000011.9:g.17409478C>A , CM000673.1:g.17409478C>A GRCh37
NC_000011.8:g.17366054C>A NCBI36
NG_012446.1:g.5729G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000528992.2:c.-68G>T ENSP00000436479.2:n.-68G>T
ENST00000682350.1:c.-16-85G>T ENSP00000508090.1:n.-16-85G>T
ENST00000682764.1:c.-16-85G>T ENSP00000506780.1:n.-16-85G>T
ENST00000339994.5:c.161G>T MANE Select ENSP00000345708.4:p.Arg54Leu
ENST00000339994.4:c.161G>T ENSP00000345708.4:p.Arg54Leu
ENST00000526912.1:c.-16-85G>T ENSP00000432729.1:n.-16-85G>T
ENST00000528731.1:c.-16-85G>T ENSP00000434755.1:n.-16-85G>T
ENST00000528992.1:c.178G>T
NM_000525.3:c.161G>T NP_000516.3:p.Arg54Leu
NM_001166290.1:c.-16-85G>T NP_001159762.1:n.-16-85G>T
XM_006718226.2:c.-16-85G>T XP_006718289.1:n.-16-85G>T
XR_930867.1:n.319G>T
XM_006718226.3:c.-16-85G>T XP_006718289.1:n.-16-85G>T
XM_017017680.1:c.-16-85G>T XP_016873169.1:n.-16-85G>T
NM_001166290.2:c.-16-85G>T NP_001159762.1:n.-16-85G>T
NM_001377296.1:c.-16-85G>T NP_001364225.1:n.-16-85G>T
NM_001377297.1:c.-16-85G>T NP_001364226.1:n.-16-85G>T
NM_000525.4:c.161G>T MANE Select NP_000516.3:p.Arg54Leu