Canonical Allele Identifier: CA1788129336
Gene: CHD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865161T= , CM000670.2:g.60865161T= GRCh38
NC_000008.10:g.61777720T= , CM000670.1:g.61777720T= GRCh37
NC_000008.9:g.61940274T= NCBI36
NG_007009.1:g.191382T= , LRG_176:g.191382T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1398T=
ENST00000695852.1:n.329T=
ENST00000695853.1:c.*1281T= ENSP00000512218.1:n.*1281T=
ENST00000423902.7:c.8222T= MANE Select ENSP00000392028.1:p.Ile2741=
ENST00000423902.6:c.8222T= ENSP00000392028.1:p.Ile2741=
ENST00000524602.5:c.2075T= ENSP00000437061.1:p.Ile692=
ENST00000528280.1:n.268T=
NM_001316690.1:c.2075T= NP_001303619.1:p.Ile692=
NM_017780.3:c.8222T= NP_060250.2:p.Ile2741=
XM_011517553.1:c.8312T= XP_011515855.1:p.Ile2771=
XM_011517554.1:c.8312T= XP_011515856.1:p.Ile2771=
XM_011517555.1:c.8309T= XP_011515857.1:p.Ile2770=
XM_011517556.1:c.8090T= XP_011515858.1:p.Ile2697=
XM_011517557.1:c.6299T= XP_011515859.1:p.Ile2100=
XM_011517558.1:c.5849T= XP_011515860.1:p.Ile1950=
XM_011517559.1:c.5057T= XP_011515861.1:p.Ile1686=
XM_011517553.2:c.8312T= XP_011515855.1:p.Ile2771=
XM_011517554.3:c.8312T= XP_011515856.1:p.Ile2771=
XM_011517555.2:c.8309T= XP_011515857.1:p.Ile2770=
XM_017013612.1:c.8312T= XP_016869101.1:p.Ile2771=
XM_017013613.1:c.8219T= XP_016869102.1:p.Ile2740=
NM_017780.4:c.8222T= MANE Select NP_060250.2:p.Ile2741=