Canonical Allele Identifier: CA371304394

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773527C>A (hg19) ; chr8:g.60860968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860968C>A , CM000670.2:g.60860968C>A	GRCh38
NC_000008.10:g.61773527C>A , CM000670.1:g.61773527C>A	GRCh37
NC_000008.9:g.61936081C>A	NCBI36
NG_007009.1:g.187189C>A , LRG_176:g.187189C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.849C>A
ENST00000695851.1:n.53C>A
ENST00000695853.1:c.*732C>A	ENSP00000512218.1:n.*732C>A
ENST00000423902.7:c.7673C>A MANE Select	ENSP00000392028.1:p.Pro2558His
ENST00000423902.6:c.7673C>A	ENSP00000392028.1:p.Pro2558His
ENST00000524602.5:c.1717-1261C>A	ENSP00000437061.1:n.1717-1261C>A
ENST00000531695.1:n.97C>A
ENST00000618450.1:n.65C>A
NM_001316690.1:c.1717-1261C>A	NP_001303619.1:n.1717-1261C>A
NM_017780.3:c.7673C>A	NP_060250.2:p.Pro2558His
XM_011517553.1:c.7763C>A	XP_011515855.1:p.Pro2588His
XM_011517554.1:c.7763C>A	XP_011515856.1:p.Pro2588His
XM_011517555.1:c.7760C>A	XP_011515857.1:p.Pro2587His
XM_011517556.1:c.7699-1228C>A	XP_011515858.1:n.7699-1228C>A
XM_011517557.1:c.5750C>A	XP_011515859.1:p.Pro1917His
XM_011517558.1:c.5300C>A	XP_011515860.1:p.Pro1767His
XM_011517559.1:c.4508C>A	XP_011515861.1:p.Pro1503His
XM_011517553.2:c.7763C>A	XP_011515855.1:p.Pro2588His
XM_011517554.3:c.7763C>A	XP_011515856.1:p.Pro2588His
XM_011517555.2:c.7760C>A	XP_011515857.1:p.Pro2587His
XM_017013612.1:c.7763C>A	XP_016869101.1:p.Pro2588His
XM_017013613.1:c.7670C>A	XP_016869102.1:p.Pro2557His
NM_017780.4:c.7673C>A MANE Select	NP_060250.2:p.Pro2558His