Canonical Allele Identifier: CA461105826

Gene: CHD7

Linked Data

• dbSNP Id: rs1165672246
• gnomAD v3: 8-60865159-G-A
• gnomAD v4: 8-60865159-G-A
• MyVariant Identifiers: chr8:g.61777718G>A (hg19) ; chr8:g.60865159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865159G>A , CM000670.2:g.60865159G>A	GRCh38
NC_000008.10:g.61777718G>A , CM000670.1:g.61777718G>A	GRCh37
NC_000008.9:g.61940272G>A	NCBI36
NG_007009.1:g.191380G>A , LRG_176:g.191380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1396G>A
ENST00000695852.1:n.327G>A
ENST00000695853.1:c.*1279G>A	ENSP00000512218.1:n.*1279G>A
ENST00000423902.7:c.8220G>A MANE Select	ENSP00000392028.1:p.Gly2740=
ENST00000423902.6:c.8220G>A	ENSP00000392028.1:p.Gly2740=
ENST00000524602.5:c.2073G>A	ENSP00000437061.1:p.Gly691=
ENST00000528280.1:n.266G>A
NM_001316690.1:c.2073G>A	NP_001303619.1:p.Gly691=
NM_017780.3:c.8220G>A	NP_060250.2:p.Gly2740=
XM_011517553.1:c.8310G>A	XP_011515855.1:p.Gly2770=
XM_011517554.1:c.8310G>A	XP_011515856.1:p.Gly2770=
XM_011517555.1:c.8307G>A	XP_011515857.1:p.Gly2769=
XM_011517556.1:c.8088G>A	XP_011515858.1:p.Gly2696=
XM_011517557.1:c.6297G>A	XP_011515859.1:p.Gly2099=
XM_011517558.1:c.5847G>A	XP_011515860.1:p.Gly1949=
XM_011517559.1:c.5055G>A	XP_011515861.1:p.Gly1685=
XM_011517553.2:c.8310G>A	XP_011515855.1:p.Gly2770=
XM_011517554.3:c.8310G>A	XP_011515856.1:p.Gly2770=
XM_011517555.2:c.8307G>A	XP_011515857.1:p.Gly2769=
XM_017013612.1:c.8310G>A	XP_016869101.1:p.Gly2770=
XM_017013613.1:c.8217G>A	XP_016869102.1:p.Gly2739=
NM_017780.4:c.8220G>A MANE Select	NP_060250.2:p.Gly2740=