Canonical Allele Identifier: CA461105885

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865270-A-G
• MyVariant Identifiers: chr8:g.61777829A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865270A>G , CM000670.2:g.60865270A>G	GRCh38
NC_000008.10:g.61777829A>G , CM000670.1:g.61777829A>G	GRCh37
NC_000008.9:g.61940383A>G	NCBI36
NG_007009.1:g.191491A>G , LRG_176:g.191491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1507A>G
ENST00000695852.1:n.438A>G
ENST00000695853.1:c.*1390A>G	ENSP00000512218.1:n.*1390A>G
ENST00000423902.7:c.8331A>G MANE Select	ENSP00000392028.1:p.Pro2777=
ENST00000423902.6:c.8331A>G	ENSP00000392028.1:p.Pro2777=
ENST00000524602.5:c.2184A>G	ENSP00000437061.1:p.Pro728=
ENST00000528280.1:n.377A>G
NM_001316690.1:c.2184A>G	NP_001303619.1:p.Pro728=
NM_017780.3:c.8331A>G	NP_060250.2:p.Pro2777=
XM_011517553.1:c.8421A>G	XP_011515855.1:p.Pro2807=
XM_011517554.1:c.8421A>G	XP_011515856.1:p.Pro2807=
XM_011517555.1:c.8418A>G	XP_011515857.1:p.Pro2806=
XM_011517556.1:c.8199A>G	XP_011515858.1:p.Pro2733=
XM_011517557.1:c.6408A>G	XP_011515859.1:p.Pro2136=
XM_011517558.1:c.5958A>G	XP_011515860.1:p.Pro1986=
XM_011517559.1:c.5166A>G	XP_011515861.1:p.Pro1722=
XM_011517553.2:c.8421A>G	XP_011515855.1:p.Pro2807=
XM_011517554.3:c.8421A>G	XP_011515856.1:p.Pro2807=
XM_011517555.2:c.8418A>G	XP_011515857.1:p.Pro2806=
XM_017013612.1:c.8421A>G	XP_016869101.1:p.Pro2807=
XM_017013613.1:c.8328A>G	XP_016869102.1:p.Pro2776=
NM_017780.4:c.8331A>G MANE Select	NP_060250.2:p.Pro2777=