Canonical Allele Identifier: CA1955119427
Community Standard Title: NM_000525.4(KCNJ11):c.212C= (p.Thr71=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387880G= , CM000673.2:g.17387880G= GRCh38
NC_000011.9:g.17409427G= , CM000673.1:g.17409427G= GRCh37
NC_000011.8:g.17366003G= NCBI36
NG_012446.1:g.5780C=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.212C= MANE Select NP_000516.3:p.Thr71=
ENST00000339994.5:c.212C= MANE Select ENSP00000345708.4:p.Thr71=
NM_000525.3:c.212C= NP_000516.3:p.Thr71=
NM_001166290.1:c.-16-34C= NP_001159762.1:n.-16-34C=
NM_001166290.2:c.-16-34C= NP_001159762.1:n.-16-34C=
NM_001377296.1:c.-16-34C= NP_001364225.1:n.-16-34C=
NM_001377297.1:c.-16-34C= NP_001364226.1:n.-16-34C=
ENST00000339994.4:c.212C= ENSP00000345708.4:p.Thr71=
ENST00000526912.1:c.-16-34C= ENSP00000432729.1:n.-16-34C=
ENST00000528731.1:c.-16-34C= ENSP00000434755.1:n.-16-34C=
ENST00000528992.1:c.229C=
ENST00000528992.2:c.-17C= ENSP00000436479.2:n.-17C=
ENST00000682350.1:c.-16-34C= ENSP00000508090.1:n.-16-34C=
ENST00000682764.1:c.-16-34C= ENSP00000506780.1:n.-16-34C=
XM_006718226.2:c.-16-34C= XP_006718289.1:n.-16-34C=
XM_006718226.3:c.-16-34C= XP_006718289.1:n.-16-34C=
XM_017017680.1:c.-16-34C= XP_016873169.1:n.-16-34C=
XR_930867.1:n.370C=