Canonical Allele Identifier: CA371299896

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61769038G>C (hg19) ; chr8:g.60856479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856479G>C , CM000670.2:g.60856479G>C	GRCh38
NC_000008.10:g.61769038G>C , CM000670.1:g.61769038G>C	GRCh37
NC_000008.9:g.61931592G>C	NCBI36
NG_007009.1:g.182700G>C , LRG_176:g.182700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.375G>C
ENST00000695853.1:c.*258G>C	ENSP00000512218.1:n.*258G>C
ENST00000423902.7:c.7199G>C MANE Select	ENSP00000392028.1:p.Arg2400Pro
ENST00000423902.6:c.7199G>C	ENSP00000392028.1:p.Arg2400Pro
ENST00000524602.5:c.1717-5750G>C	ENSP00000437061.1:n.1717-5750G>C
ENST00000529472.1:n.380G>C
NM_001316690.1:c.1717-5750G>C	NP_001303619.1:n.1717-5750G>C
NM_017780.3:c.7199G>C	NP_060250.2:p.Arg2400Pro
XM_011517553.1:c.7289G>C	XP_011515855.1:p.Arg2430Pro
XM_011517554.1:c.7289G>C	XP_011515856.1:p.Arg2430Pro
XM_011517555.1:c.7286G>C	XP_011515857.1:p.Arg2429Pro
XM_011517556.1:c.7289G>C	XP_011515858.1:p.Arg2430Pro
XM_011517557.1:c.5276G>C	XP_011515859.1:p.Arg1759Pro
XM_011517558.1:c.4826G>C	XP_011515860.1:p.Arg1609Pro
XM_011517559.1:c.4034G>C	XP_011515861.1:p.Arg1345Pro
XM_011517553.2:c.7289G>C	XP_011515855.1:p.Arg2430Pro
XM_011517554.3:c.7289G>C	XP_011515856.1:p.Arg2430Pro
XM_011517555.2:c.7286G>C	XP_011515857.1:p.Arg2429Pro
XM_017013612.1:c.7289G>C	XP_016869101.1:p.Arg2430Pro
XM_017013613.1:c.7196G>C	XP_016869102.1:p.Arg2399Pro
NM_017780.4:c.7199G>C MANE Select	NP_060250.2:p.Arg2400Pro