Canonical Allele Identifier: CA371307397

Gene: CHD7

Linked Data

• dbSNP Id: rs2129757799
• gnomAD v4: 8-60865092-G-A
• MyVariant Identifiers: chr8:g.61777651G>A (hg19) ; chr8:g.60865092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865092G>A , CM000670.2:g.60865092G>A	GRCh38
NC_000008.10:g.61777651G>A , CM000670.1:g.61777651G>A	GRCh37
NC_000008.9:g.61940205G>A	NCBI36
NG_007009.1:g.191313G>A , LRG_176:g.191313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1329G>A
ENST00000695852.1:n.260G>A
ENST00000695853.1:c.*1212G>A	ENSP00000512218.1:n.*1212G>A
ENST00000423902.7:c.8153G>A MANE Select	ENSP00000392028.1:p.Gly2718Glu
ENST00000423902.6:c.8153G>A	ENSP00000392028.1:p.Gly2718Glu
ENST00000524602.5:c.2006G>A	ENSP00000437061.1:p.Gly669Glu
ENST00000528280.1:n.199G>A
ENST00000532149.1:n.575G>A
ENST00000618450.1:n.4189G>A
NM_001316690.1:c.2006G>A	NP_001303619.1:p.Gly669Glu
NM_017780.3:c.8153G>A	NP_060250.2:p.Gly2718Glu
XM_011517553.1:c.8243G>A	XP_011515855.1:p.Gly2748Glu
XM_011517554.1:c.8243G>A	XP_011515856.1:p.Gly2748Glu
XM_011517555.1:c.8240G>A	XP_011515857.1:p.Gly2747Glu
XM_011517556.1:c.8021G>A	XP_011515858.1:p.Gly2674Glu
XM_011517557.1:c.6230G>A	XP_011515859.1:p.Gly2077Glu
XM_011517558.1:c.5780G>A	XP_011515860.1:p.Gly1927Glu
XM_011517559.1:c.4988G>A	XP_011515861.1:p.Gly1663Glu
XM_011517553.2:c.8243G>A	XP_011515855.1:p.Gly2748Glu
XM_011517554.3:c.8243G>A	XP_011515856.1:p.Gly2748Glu
XM_011517555.2:c.8240G>A	XP_011515857.1:p.Gly2747Glu
XM_017013612.1:c.8243G>A	XP_016869101.1:p.Gly2748Glu
XM_017013613.1:c.8150G>A	XP_016869102.1:p.Gly2717Glu
NM_017780.4:c.8153G>A MANE Select	NP_060250.2:p.Gly2718Glu