Canonical Allele Identifier: CA371304472

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773546C>G (hg19) ; chr8:g.60860987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860987C>G , CM000670.2:g.60860987C>G	GRCh38
NC_000008.10:g.61773546C>G , CM000670.1:g.61773546C>G	GRCh37
NC_000008.9:g.61936100C>G	NCBI36
NG_007009.1:g.187208C>G , LRG_176:g.187208C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.868C>G
ENST00000695851.1:n.72C>G
ENST00000695853.1:c.*751C>G	ENSP00000512218.1:n.*751C>G
ENST00000423902.7:c.7692C>G MANE Select	ENSP00000392028.1:p.Asp2564Glu
ENST00000423902.6:c.7692C>G	ENSP00000392028.1:p.Asp2564Glu
ENST00000524602.5:c.1717-1242C>G	ENSP00000437061.1:n.1717-1242C>G
ENST00000531695.1:n.116C>G
ENST00000618450.1:n.84C>G
NM_001316690.1:c.1717-1242C>G	NP_001303619.1:n.1717-1242C>G
NM_017780.3:c.7692C>G	NP_060250.2:p.Asp2564Glu
XM_011517553.1:c.7782C>G	XP_011515855.1:p.Asp2594Glu
XM_011517554.1:c.7782C>G	XP_011515856.1:p.Asp2594Glu
XM_011517555.1:c.7779C>G	XP_011515857.1:p.Asp2593Glu
XM_011517556.1:c.7699-1209C>G	XP_011515858.1:n.7699-1209C>G
XM_011517557.1:c.5769C>G	XP_011515859.1:p.Asp1923Glu
XM_011517558.1:c.5319C>G	XP_011515860.1:p.Asp1773Glu
XM_011517559.1:c.4527C>G	XP_011515861.1:p.Asp1509Glu
XM_011517553.2:c.7782C>G	XP_011515855.1:p.Asp2594Glu
XM_011517554.3:c.7782C>G	XP_011515856.1:p.Asp2594Glu
XM_011517555.2:c.7779C>G	XP_011515857.1:p.Asp2593Glu
XM_017013612.1:c.7782C>G	XP_016869101.1:p.Asp2594Glu
XM_017013613.1:c.7689C>G	XP_016869102.1:p.Asp2563Glu
NM_017780.4:c.7692C>G MANE Select	NP_060250.2:p.Asp2564Glu