Canonical Allele Identifier: CA3189260829
Community Standard Title: NM_000525.4(KCNJ11):c.658G= (p.Val220=)
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387434C= , CM000673.2:g.17387434C= GRCh38
NC_000011.9:g.17408981C= , CM000673.1:g.17408981C= GRCh37
NC_000011.8:g.17365557C= NCBI36
NG_012446.1:g.6226G=

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.658G= MANE Select NP_000516.3:p.Val220=
ENST00000339994.5:c.658G= MANE Select ENSP00000345708.4:p.Val220=
NM_000525.3:c.658G= NP_000516.3:p.Val220=
NM_001166290.1:c.397G= NP_001159762.1:p.Val133=
NM_001166290.2:c.397G= NP_001159762.1:p.Val133=
NM_001377296.1:c.397G= NP_001364225.1:p.Val133=
NM_001377297.1:c.397G= NP_001364226.1:p.Val133=
ENST00000339994.4:c.658G= ENSP00000345708.4:p.Val220=
ENST00000526912.1:c.397G= ENSP00000432729.1:p.Val133=
ENST00000528731.1:c.397G= ENSP00000434755.1:p.Val133=
ENST00000682350.1:c.397G= ENSP00000508090.1:p.Val133=
ENST00000682764.1:c.397G= ENSP00000506780.1:p.Val133=
XM_006718226.2:c.397G= XP_006718289.1:p.Val133=
XM_006718226.3:c.397G= XP_006718289.1:p.Val133=
XM_017017680.1:c.397G= XP_016873169.1:p.Val133=
XR_930867.1:n.816G=