Canonical Allele Identifier: CA2687400529

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860854-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860854A>C , CM000670.2:g.60860854A>C	GRCh38
NC_000008.10:g.61773413A>C , CM000670.1:g.61773413A>C	GRCh37
NC_000008.9:g.61935967A>C	NCBI36
NG_007009.1:g.187075A>C , LRG_176:g.187075A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.785-50A>C
ENST00000695853.1:c.*668-50A>C	ENSP00000512218.1:n.*668-50A>C
ENST00000423902.7:c.7609-50A>C MANE Select	ENSP00000392028.1:n.7609-50A>C
ENST00000423902.6:c.7609-50A>C	ENSP00000392028.1:n.7609-50A>C
ENST00000524602.5:c.1717-1375A>C	ENSP00000437061.1:n.1717-1375A>C
ENST00000531695.1:n.33-50A>C
NM_001316690.1:c.1717-1375A>C	NP_001303619.1:n.1717-1375A>C
NM_017780.3:c.7609-50A>C	NP_060250.2:n.7609-50A>C
XM_011517553.1:c.7699-50A>C	XP_011515855.1:n.7699-50A>C
XM_011517554.1:c.7699-50A>C	XP_011515856.1:n.7699-50A>C
XM_011517555.1:c.7696-50A>C	XP_011515857.1:n.7696-50A>C
XM_011517556.1:c.7699-1342A>C	XP_011515858.1:n.7699-1342A>C
XM_011517557.1:c.5686-50A>C	XP_011515859.1:n.5686-50A>C
XM_011517558.1:c.5236-50A>C	XP_011515860.1:n.5236-50A>C
XM_011517559.1:c.4444-50A>C	XP_011515861.1:n.4444-50A>C
XM_011517553.2:c.7699-50A>C	XP_011515855.1:n.7699-50A>C
XM_011517554.3:c.7699-50A>C	XP_011515856.1:n.7699-50A>C
XM_011517555.2:c.7696-50A>C	XP_011515857.1:n.7696-50A>C
XM_017013612.1:c.7699-50A>C	XP_016869101.1:n.7699-50A>C
XM_017013613.1:c.7606-50A>C	XP_016869102.1:n.7606-50A>C
NM_017780.4:c.7609-50A>C MANE Select	NP_060250.2:n.7609-50A>C