Canonical Allele Identifier: CA371310143

Gene: CHD7

Linked Data

• COSMIC: COSM383559
• MyVariant Identifiers: chr8:g.61778017C>A (hg19) ; chr8:g.60865458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865458C>A , CM000670.2:g.60865458C>A	GRCh38
NC_000008.10:g.61778017C>A , CM000670.1:g.61778017C>A	GRCh37
NC_000008.9:g.61940571C>A	NCBI36
NG_007009.1:g.191679C>A , LRG_176:g.191679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1695C>A
ENST00000695852.1:n.626C>A
ENST00000695853.1:c.*1578C>A	ENSP00000512218.1:n.*1578C>A
ENST00000423902.7:c.8519C>A MANE Select	ENSP00000392028.1:p.Thr2840Asn
ENST00000423902.6:c.8519C>A	ENSP00000392028.1:p.Thr2840Asn
ENST00000524602.5:c.2372C>A	ENSP00000437061.1:p.Thr791Asn
ENST00000528280.1:n.565C>A
NM_001316690.1:c.2372C>A	NP_001303619.1:p.Thr791Asn
NM_017780.3:c.8519C>A	NP_060250.2:p.Thr2840Asn
XM_011517553.1:c.8609C>A	XP_011515855.1:p.Thr2870Asn
XM_011517554.1:c.8609C>A	XP_011515856.1:p.Thr2870Asn
XM_011517555.1:c.8606C>A	XP_011515857.1:p.Thr2869Asn
XM_011517556.1:c.8387C>A	XP_011515858.1:p.Thr2796Asn
XM_011517557.1:c.6596C>A	XP_011515859.1:p.Thr2199Asn
XM_011517558.1:c.6146C>A	XP_011515860.1:p.Thr2049Asn
XM_011517559.1:c.5354C>A	XP_011515861.1:p.Thr1785Asn
XM_011517553.2:c.8609C>A	XP_011515855.1:p.Thr2870Asn
XM_011517554.3:c.8609C>A	XP_011515856.1:p.Thr2870Asn
XM_011517555.2:c.8606C>A	XP_011515857.1:p.Thr2869Asn
XM_017013612.1:c.8609C>A	XP_016869101.1:p.Thr2870Asn
XM_017013613.1:c.8516C>A	XP_016869102.1:p.Thr2839Asn
NM_017780.4:c.8519C>A MANE Select	NP_060250.2:p.Thr2840Asn