Canonical Allele Identifier: CA4760981

Gene: CHD7

Linked Data

• dbSNP Id: rs750806167
• ExAC: 8:61777775 G / C
• gnomAD v2: 8-61777775-G-C
• gnomAD v4: 8-60865216-G-C
• MyVariant Identifiers: chr8:g.61777775G>C (hg19) ; chr8:g.60865216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865216G>C , CM000670.2:g.60865216G>C	GRCh38
NC_000008.10:g.61777775G>C , CM000670.1:g.61777775G>C	GRCh37
NC_000008.9:g.61940329G>C	NCBI36
NG_007009.1:g.191437G>C , LRG_176:g.191437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1453G>C
ENST00000695852.1:n.384G>C
ENST00000695853.1:c.*1336G>C	ENSP00000512218.1:n.*1336G>C
ENST00000423902.7:c.8277G>C MANE Select	ENSP00000392028.1:p.Gln2759His
ENST00000423902.6:c.8277G>C	ENSP00000392028.1:p.Gln2759His
ENST00000524602.5:c.2130G>C	ENSP00000437061.1:p.Gln710His
ENST00000528280.1:n.323G>C
NM_001316690.1:c.2130G>C	NP_001303619.1:p.Gln710His
NM_017780.3:c.8277G>C	NP_060250.2:p.Gln2759His
XM_011517553.1:c.8367G>C	XP_011515855.1:p.Gln2789His
XM_011517554.1:c.8367G>C	XP_011515856.1:p.Gln2789His
XM_011517555.1:c.8364G>C	XP_011515857.1:p.Gln2788His
XM_011517556.1:c.8145G>C	XP_011515858.1:p.Gln2715His
XM_011517557.1:c.6354G>C	XP_011515859.1:p.Gln2118His
XM_011517558.1:c.5904G>C	XP_011515860.1:p.Gln1968His
XM_011517559.1:c.5112G>C	XP_011515861.1:p.Gln1704His
XM_011517553.2:c.8367G>C	XP_011515855.1:p.Gln2789His
XM_011517554.3:c.8367G>C	XP_011515856.1:p.Gln2789His
XM_011517555.2:c.8364G>C	XP_011515857.1:p.Gln2788His
XM_017013612.1:c.8367G>C	XP_016869101.1:p.Gln2789His
XM_017013613.1:c.8274G>C	XP_016869102.1:p.Gln2758His
NM_017780.4:c.8277G>C MANE Select	NP_060250.2:p.Gln2759His