Canonical Allele Identifier: CA371304389

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860967-C-A
• MyVariant Identifiers: chr8:g.61773526C>A (hg19) ; chr8:g.60860967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860967C>A , CM000670.2:g.60860967C>A	GRCh38
NC_000008.10:g.61773526C>A , CM000670.1:g.61773526C>A	GRCh37
NC_000008.9:g.61936080C>A	NCBI36
NG_007009.1:g.187188C>A , LRG_176:g.187188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.848C>A
ENST00000695851.1:n.52C>A
ENST00000695853.1:c.*731C>A	ENSP00000512218.1:n.*731C>A
ENST00000423902.7:c.7672C>A MANE Select	ENSP00000392028.1:p.Pro2558Thr
ENST00000423902.6:c.7672C>A	ENSP00000392028.1:p.Pro2558Thr
ENST00000524602.5:c.1717-1262C>A	ENSP00000437061.1:n.1717-1262C>A
ENST00000531695.1:n.96C>A
ENST00000618450.1:n.64C>A
NM_001316690.1:c.1717-1262C>A	NP_001303619.1:n.1717-1262C>A
NM_017780.3:c.7672C>A	NP_060250.2:p.Pro2558Thr
XM_011517553.1:c.7762C>A	XP_011515855.1:p.Pro2588Thr
XM_011517554.1:c.7762C>A	XP_011515856.1:p.Pro2588Thr
XM_011517555.1:c.7759C>A	XP_011515857.1:p.Pro2587Thr
XM_011517556.1:c.7699-1229C>A	XP_011515858.1:n.7699-1229C>A
XM_011517557.1:c.5749C>A	XP_011515859.1:p.Pro1917Thr
XM_011517558.1:c.5299C>A	XP_011515860.1:p.Pro1767Thr
XM_011517559.1:c.4507C>A	XP_011515861.1:p.Pro1503Thr
XM_011517553.2:c.7762C>A	XP_011515855.1:p.Pro2588Thr
XM_011517554.3:c.7762C>A	XP_011515856.1:p.Pro2588Thr
XM_011517555.2:c.7759C>A	XP_011515857.1:p.Pro2587Thr
XM_017013612.1:c.7762C>A	XP_016869101.1:p.Pro2588Thr
XM_017013613.1:c.7669C>A	XP_016869102.1:p.Pro2557Thr
NM_017780.4:c.7672C>A MANE Select	NP_060250.2:p.Pro2558Thr