Canonical Allele Identifier: CA3189257223
Community Standard Title: NM_000525.4(KCNJ11):c.1149C= (p.Ser383=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386943G= , CM000673.2:g.17386943G= GRCh38
NC_000011.9:g.17408490G= , CM000673.1:g.17408490G= GRCh37
NC_000011.8:g.17365066G= NCBI36
NG_012446.1:g.6717C=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.1149C= MANE Select NP_000516.3:p.Ser383=
ENST00000339994.5:c.1149C= MANE Select ENSP00000345708.4:p.Ser383=
NM_000525.3:c.1149C= NP_000516.3:p.Ser383=
NM_001166290.1:c.888C= NP_001159762.1:p.Ser296=
NM_001166290.2:c.888C= NP_001159762.1:p.Ser296=
NM_001377296.1:c.888C= NP_001364225.1:p.Ser296=
NM_001377297.1:c.888C= NP_001364226.1:p.Ser296=
ENST00000339994.4:c.1149C= ENSP00000345708.4:p.Ser383=
ENST00000528731.1:c.888C= ENSP00000434755.1:p.Ser296=
ENST00000682350.1:c.888C= ENSP00000508090.1:p.Ser296=
ENST00000682764.1:c.888C= ENSP00000506780.1:p.Ser296=
XM_006718226.2:c.888C= XP_006718289.1:p.Ser296=
XM_006718226.3:c.888C= XP_006718289.1:p.Ser296=
XM_017017680.1:c.888C= XP_016873169.1:p.Ser296=
XR_930867.1:n.1307C=