Canonical Allele Identifier: CA371299925

Gene: CHD7

Linked Data

• gnomAD v4: 8-60856484-A-G
• COSMIC: COSM4828599
• MyVariant Identifiers: chr8:g.61769043A>G (hg19) ; chr8:g.60856484A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856484A>G , CM000670.2:g.60856484A>G	GRCh38
NC_000008.10:g.61769043A>G , CM000670.1:g.61769043A>G	GRCh37
NC_000008.9:g.61931597A>G	NCBI36
NG_007009.1:g.182705A>G , LRG_176:g.182705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.380A>G
ENST00000695853.1:c.*263A>G	ENSP00000512218.1:n.*263A>G
ENST00000423902.7:c.7204A>G MANE Select	ENSP00000392028.1:p.Arg2402Gly
ENST00000423902.6:c.7204A>G	ENSP00000392028.1:p.Arg2402Gly
ENST00000524602.5:c.1717-5745A>G	ENSP00000437061.1:n.1717-5745A>G
ENST00000529472.1:n.385A>G
NM_001316690.1:c.1717-5745A>G	NP_001303619.1:n.1717-5745A>G
NM_017780.3:c.7204A>G	NP_060250.2:p.Arg2402Gly
XM_011517553.1:c.7294A>G	XP_011515855.1:p.Arg2432Gly
XM_011517554.1:c.7294A>G	XP_011515856.1:p.Arg2432Gly
XM_011517555.1:c.7291A>G	XP_011515857.1:p.Arg2431Gly
XM_011517556.1:c.7294A>G	XP_011515858.1:p.Arg2432Gly
XM_011517557.1:c.5281A>G	XP_011515859.1:p.Arg1761Gly
XM_011517558.1:c.4831A>G	XP_011515860.1:p.Arg1611Gly
XM_011517559.1:c.4039A>G	XP_011515861.1:p.Arg1347Gly
XM_011517553.2:c.7294A>G	XP_011515855.1:p.Arg2432Gly
XM_011517554.3:c.7294A>G	XP_011515856.1:p.Arg2432Gly
XM_011517555.2:c.7291A>G	XP_011515857.1:p.Arg2431Gly
XM_017013612.1:c.7294A>G	XP_016869101.1:p.Arg2432Gly
XM_017013613.1:c.7201A>G	XP_016869102.1:p.Arg2401Gly
NM_017780.4:c.7204A>G MANE Select	NP_060250.2:p.Arg2402Gly