Canonical Allele Identifier: CA371310346

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61778037G>C (hg19) ; chr8:g.60865478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865478G>C , CM000670.2:g.60865478G>C	GRCh38
NC_000008.10:g.61778037G>C , CM000670.1:g.61778037G>C	GRCh37
NC_000008.9:g.61940591G>C	NCBI36
NG_007009.1:g.191699G>C , LRG_176:g.191699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1715G>C
ENST00000695852.1:n.646G>C
ENST00000695853.1:c.*1598G>C	ENSP00000512218.1:n.*1598G>C
ENST00000423902.7:c.8539G>C MANE Select	ENSP00000392028.1:p.Gly2847Arg
ENST00000423902.6:c.8539G>C	ENSP00000392028.1:p.Gly2847Arg
ENST00000524602.5:c.2392G>C	ENSP00000437061.1:p.Gly798Arg
NM_001316690.1:c.2392G>C	NP_001303619.1:p.Gly798Arg
NM_017780.3:c.8539G>C	NP_060250.2:p.Gly2847Arg
XM_011517553.1:c.8629G>C	XP_011515855.1:p.Gly2877Arg
XM_011517554.1:c.8629G>C	XP_011515856.1:p.Gly2877Arg
XM_011517555.1:c.8626G>C	XP_011515857.1:p.Gly2876Arg
XM_011517556.1:c.8407G>C	XP_011515858.1:p.Gly2803Arg
XM_011517557.1:c.6616G>C	XP_011515859.1:p.Gly2206Arg
XM_011517558.1:c.6166G>C	XP_011515860.1:p.Gly2056Arg
XM_011517559.1:c.5374G>C	XP_011515861.1:p.Gly1792Arg
XM_011517553.2:c.8629G>C	XP_011515855.1:p.Gly2877Arg
XM_011517554.3:c.8629G>C	XP_011515856.1:p.Gly2877Arg
XM_011517555.2:c.8626G>C	XP_011515857.1:p.Gly2876Arg
XM_017013612.1:c.8629G>C	XP_016869101.1:p.Gly2877Arg
XM_017013613.1:c.8536G>C	XP_016869102.1:p.Gly2846Arg
NM_017780.4:c.8539G>C MANE Select	NP_060250.2:p.Gly2847Arg