Canonical Allele Identifier: CA1955119488
Community Standard Title: NM_000525.4(KCNJ11):c.79C= (p.Arg27=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17388013G= , CM000673.2:g.17388013G= GRCh38
NC_000011.9:g.17409560G= , CM000673.1:g.17409560G= GRCh37
NC_000011.8:g.17366136G= NCBI36
NG_012446.1:g.5647C=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.79C= MANE Select NP_000516.3:p.Arg27=
ENST00000339994.5:c.79C= MANE Select ENSP00000345708.4:p.Arg27=
NM_000525.3:c.79C= NP_000516.3:p.Arg27=
NM_001166290.1:c.-16-167C= NP_001159762.1:n.-16-167C=
NM_001166290.2:c.-16-167C= NP_001159762.1:n.-16-167C=
NM_001377296.1:c.-17+5C= NP_001364225.1:n.-17+5C=
NM_001377297.1:c.-16-167C= NP_001364226.1:n.-16-167C=
ENST00000339994.4:c.79C= ENSP00000345708.4:p.Arg27=
ENST00000526912.1:c.-17+5C= ENSP00000432729.1:n.-17+5C=
ENST00000528731.1:c.-16-167C= ENSP00000434755.1:n.-16-167C=
ENST00000528992.1:c.96C=
ENST00000528992.2:c.-150C= ENSP00000436479.2:n.-150C=
ENST00000682350.1:c.-16-167C= ENSP00000508090.1:n.-16-167C=
ENST00000682764.1:c.-16-167C= ENSP00000506780.1:n.-16-167C=
XM_006718226.2:c.-16-167C= XP_006718289.1:n.-16-167C=
XM_006718226.3:c.-16-167C= XP_006718289.1:n.-16-167C=
XM_017017680.1:c.-16-167C= XP_016873169.1:n.-16-167C=
XR_930867.1:n.237C=