Canonical Allele Identifier: CA3189257159
Community Standard Title: NM_000525.4(KCNJ11):c.1162T= (p.Ser388=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386930A= , CM000673.2:g.17386930A= GRCh38
NC_000011.9:g.17408477A= , CM000673.1:g.17408477A= GRCh37
NC_000011.8:g.17365053A= NCBI36
NG_012446.1:g.6730T=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.1162T= MANE Select NP_000516.3:p.Ser388=
ENST00000339994.5:c.1162T= MANE Select ENSP00000345708.4:p.Ser388=
NM_000525.3:c.1162T= NP_000516.3:p.Ser388=
NM_001166290.1:c.901T= NP_001159762.1:p.Ser301=
NM_001166290.2:c.901T= NP_001159762.1:p.Ser301=
NM_001377296.1:c.901T= NP_001364225.1:p.Ser301=
NM_001377297.1:c.901T= NP_001364226.1:p.Ser301=
ENST00000339994.4:c.1162T= ENSP00000345708.4:p.Ser388=
ENST00000528731.1:c.901T= ENSP00000434755.1:p.Ser301=
ENST00000682350.1:c.901T= ENSP00000508090.1:p.Ser301=
ENST00000682764.1:c.901T= ENSP00000506780.1:p.Ser301=
XM_006718226.2:c.901T= XP_006718289.1:p.Ser301=
XM_006718226.3:c.901T= XP_006718289.1:p.Ser301=
XM_017017680.1:c.901T= XP_016873169.1:p.Ser301=
XR_930867.1:n.1320T=