Canonical Allele Identifier: CA1788129311
Gene: CHD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865152C= , CM000670.2:g.60865152C= GRCh38
NC_000008.10:g.61777711C= , CM000670.1:g.61777711C= GRCh37
NC_000008.9:g.61940265C= NCBI36
NG_007009.1:g.191373C= , LRG_176:g.191373C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1389C=
ENST00000695852.1:n.320C=
ENST00000695853.1:c.*1272C= ENSP00000512218.1:n.*1272C=
ENST00000423902.7:c.8213C= MANE Select ENSP00000392028.1:p.Thr2738=
ENST00000423902.6:c.8213C= ENSP00000392028.1:p.Thr2738=
ENST00000524602.5:c.2066C= ENSP00000437061.1:p.Thr689=
ENST00000528280.1:n.259C=
NM_001316690.1:c.2066C= NP_001303619.1:p.Thr689=
NM_017780.3:c.8213C= NP_060250.2:p.Thr2738=
XM_011517553.1:c.8303C= XP_011515855.1:p.Thr2768=
XM_011517554.1:c.8303C= XP_011515856.1:p.Thr2768=
XM_011517555.1:c.8300C= XP_011515857.1:p.Thr2767=
XM_011517556.1:c.8081C= XP_011515858.1:p.Thr2694=
XM_011517557.1:c.6290C= XP_011515859.1:p.Thr2097=
XM_011517558.1:c.5840C= XP_011515860.1:p.Thr1947=
XM_011517559.1:c.5048C= XP_011515861.1:p.Thr1683=
XM_011517553.2:c.8303C= XP_011515855.1:p.Thr2768=
XM_011517554.3:c.8303C= XP_011515856.1:p.Thr2768=
XM_011517555.2:c.8300C= XP_011515857.1:p.Thr2767=
XM_017013612.1:c.8303C= XP_016869101.1:p.Thr2768=
XM_017013613.1:c.8210C= XP_016869102.1:p.Thr2737=
NM_017780.4:c.8213C= MANE Select NP_060250.2:p.Thr2738=