Canonical Allele Identifier: CA371307960

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865194-G-A
• MyVariant Identifiers: chr8:g.61777753G>A (hg19) ; chr8:g.60865194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865194G>A , CM000670.2:g.60865194G>A	GRCh38
NC_000008.10:g.61777753G>A , CM000670.1:g.61777753G>A	GRCh37
NC_000008.9:g.61940307G>A	NCBI36
NG_007009.1:g.191415G>A , LRG_176:g.191415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1431G>A
ENST00000695852.1:n.362G>A
ENST00000695853.1:c.*1314G>A	ENSP00000512218.1:n.*1314G>A
ENST00000423902.7:c.8255G>A MANE Select	ENSP00000392028.1:p.Gly2752Glu
ENST00000423902.6:c.8255G>A	ENSP00000392028.1:p.Gly2752Glu
ENST00000524602.5:c.2108G>A	ENSP00000437061.1:p.Gly703Glu
ENST00000528280.1:n.301G>A
NM_001316690.1:c.2108G>A	NP_001303619.1:p.Gly703Glu
NM_017780.3:c.8255G>A	NP_060250.2:p.Gly2752Glu
XM_011517553.1:c.8345G>A	XP_011515855.1:p.Gly2782Glu
XM_011517554.1:c.8345G>A	XP_011515856.1:p.Gly2782Glu
XM_011517555.1:c.8342G>A	XP_011515857.1:p.Gly2781Glu
XM_011517556.1:c.8123G>A	XP_011515858.1:p.Gly2708Glu
XM_011517557.1:c.6332G>A	XP_011515859.1:p.Gly2111Glu
XM_011517558.1:c.5882G>A	XP_011515860.1:p.Gly1961Glu
XM_011517559.1:c.5090G>A	XP_011515861.1:p.Gly1697Glu
XM_011517553.2:c.8345G>A	XP_011515855.1:p.Gly2782Glu
XM_011517554.3:c.8345G>A	XP_011515856.1:p.Gly2782Glu
XM_011517555.2:c.8342G>A	XP_011515857.1:p.Gly2781Glu
XM_017013612.1:c.8345G>A	XP_016869101.1:p.Gly2782Glu
XM_017013613.1:c.8252G>A	XP_016869102.1:p.Gly2751Glu
NM_017780.4:c.8255G>A MANE Select	NP_060250.2:p.Gly2752Glu