Canonical Allele Identifier: CA461105928

Gene: CHD7

Linked Data

• COSMIC: COSM1489368
• MyVariant Identifiers: chr8:g.61777880T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865321T>A , CM000670.2:g.60865321T>A	GRCh38
NC_000008.10:g.61777880T>A , CM000670.1:g.61777880T>A	GRCh37
NC_000008.9:g.61940434T>A	NCBI36
NG_007009.1:g.191542T>A , LRG_176:g.191542T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1558T>A
ENST00000695852.1:n.489T>A
ENST00000695853.1:c.*1441T>A	ENSP00000512218.1:n.*1441T>A
ENST00000423902.7:c.8382T>A MANE Select	ENSP00000392028.1:p.Ala2794=
ENST00000423902.6:c.8382T>A	ENSP00000392028.1:p.Ala2794=
ENST00000524602.5:c.2235T>A	ENSP00000437061.1:p.Ala745=
ENST00000528280.1:n.428T>A
NM_001316690.1:c.2235T>A	NP_001303619.1:p.Ala745=
NM_017780.3:c.8382T>A	NP_060250.2:p.Ala2794=
XM_011517553.1:c.8472T>A	XP_011515855.1:p.Ala2824=
XM_011517554.1:c.8472T>A	XP_011515856.1:p.Ala2824=
XM_011517555.1:c.8469T>A	XP_011515857.1:p.Ala2823=
XM_011517556.1:c.8250T>A	XP_011515858.1:p.Ala2750=
XM_011517557.1:c.6459T>A	XP_011515859.1:p.Ala2153=
XM_011517558.1:c.6009T>A	XP_011515860.1:p.Ala2003=
XM_011517559.1:c.5217T>A	XP_011515861.1:p.Ala1739=
XM_011517553.2:c.8472T>A	XP_011515855.1:p.Ala2824=
XM_011517554.3:c.8472T>A	XP_011515856.1:p.Ala2824=
XM_011517555.2:c.8469T>A	XP_011515857.1:p.Ala2823=
XM_017013612.1:c.8472T>A	XP_016869101.1:p.Ala2824=
XM_017013613.1:c.8379T>A	XP_016869102.1:p.Ala2793=
NM_017780.4:c.8382T>A MANE Select	NP_060250.2:p.Ala2794=