Canonical Allele Identifier: CA1788099980

Gene: CHD7

Linked Data

• dbSNP Id: rs1811959757
• gnomAD v4: 8-60795167-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60795167G>A , CM000670.2:g.60795167G>A	GRCh38
NC_000008.10:g.61707726G>A , CM000670.1:g.61707726G>A	GRCh37
NC_000008.9:g.61870280G>A	NCBI36
NG_007009.1:g.121388G>A , LRG_176:g.121388G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.2751+40G>A
ENST00000695849.1:n.2751+40G>A
ENST00000695853.1:c.2238+40G>A	ENSP00000512218.1:n.2238+40G>A
ENST00000423902.7:c.2238+40G>A MANE Select	ENSP00000392028.1:n.2238+40G>A
ENST00000423902.6:c.2238+40G>A	ENSP00000392028.1:n.2238+40G>A
ENST00000524602.5:c.1716+14117G>A	ENSP00000437061.1:n.1716+14117G>A
ENST00000525508.1:c.2238+40G>A	ENSP00000436027.1:n.2238+40G>A
ENST00000527900.1:c.259+40G>A	ENSP00000433336.1:n.259+40G>A
NM_001316690.1:c.1716+14117G>A	NP_001303619.1:n.1716+14117G>A
NM_017780.3:c.2238+40G>A	NP_060250.2:n.2238+40G>A
XM_011517553.1:c.2238+40G>A	XP_011515855.1:n.2238+40G>A
XM_011517554.1:c.2238+40G>A	XP_011515856.1:n.2238+40G>A
XM_011517555.1:c.2238+40G>A	XP_011515857.1:n.2238+40G>A
XM_011517556.1:c.2238+40G>A	XP_011515858.1:n.2238+40G>A
XM_011517557.1:c.225+40G>A	XP_011515859.1:n.225+40G>A
XM_011517560.1:c.2238+40G>A	XP_011515862.1:n.2238+40G>A
XM_011517553.2:c.2238+40G>A	XP_011515855.1:n.2238+40G>A
XM_011517554.3:c.2238+40G>A	XP_011515856.1:n.2238+40G>A
XM_011517555.2:c.2238+40G>A	XP_011515857.1:n.2238+40G>A
XM_011517560.2:c.2238+40G>A	XP_011515862.1:n.2238+40G>A
XM_017013612.1:c.2238+40G>A	XP_016869101.1:n.2238+40G>A
XM_017013613.1:c.2238+40G>A	XP_016869102.1:n.2238+40G>A
NM_017780.4:c.2238+40G>A MANE Select	NP_060250.2:n.2238+40G>A