Canonical Allele Identifier: CA4760846

Gene: CHD7

Linked Data

• dbSNP Id: rs572312592
• ExAC: 8:61773419 T / G
• gnomAD v2: 8-61773419-T-G
• gnomAD v3: 8-60860860-T-G
• gnomAD v4: 8-60860860-T-G
• MyVariant Identifiers: chr8:g.61773419T>G (hg19) ; chr8:g.60860860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860860T>G , CM000670.2:g.60860860T>G	GRCh38
NC_000008.10:g.61773419T>G , CM000670.1:g.61773419T>G	GRCh37
NC_000008.9:g.61935973T>G	NCBI36
NG_007009.1:g.187081T>G , LRG_176:g.187081T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.785-44T>G
ENST00000695853.1:c.*668-44T>G	ENSP00000512218.1:n.*668-44T>G
ENST00000423902.7:c.7609-44T>G MANE Select	ENSP00000392028.1:n.7609-44T>G
ENST00000423902.6:c.7609-44T>G	ENSP00000392028.1:n.7609-44T>G
ENST00000524602.5:c.1717-1369T>G	ENSP00000437061.1:n.1717-1369T>G
ENST00000531695.1:n.33-44T>G
NM_001316690.1:c.1717-1369T>G	NP_001303619.1:n.1717-1369T>G
NM_017780.3:c.7609-44T>G	NP_060250.2:n.7609-44T>G
XM_011517553.1:c.7699-44T>G	XP_011515855.1:n.7699-44T>G
XM_011517554.1:c.7699-44T>G	XP_011515856.1:n.7699-44T>G
XM_011517555.1:c.7696-44T>G	XP_011515857.1:n.7696-44T>G
XM_011517556.1:c.7699-1336T>G	XP_011515858.1:n.7699-1336T>G
XM_011517557.1:c.5686-44T>G	XP_011515859.1:n.5686-44T>G
XM_011517558.1:c.5236-44T>G	XP_011515860.1:n.5236-44T>G
XM_011517559.1:c.4444-44T>G	XP_011515861.1:n.4444-44T>G
XM_011517553.2:c.7699-44T>G	XP_011515855.1:n.7699-44T>G
XM_011517554.3:c.7699-44T>G	XP_011515856.1:n.7699-44T>G
XM_011517555.2:c.7696-44T>G	XP_011515857.1:n.7696-44T>G
XM_017013612.1:c.7699-44T>G	XP_016869101.1:n.7699-44T>G
XM_017013613.1:c.7606-44T>G	XP_016869102.1:n.7606-44T>G
NM_017780.4:c.7609-44T>G MANE Select	NP_060250.2:n.7609-44T>G