Canonical Allele Identifier: CA2571390507

Gene: CHD7

Linked Data

• gnomAD v4: 8-60861143-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861143T>C , CM000670.2:g.60861143T>C	GRCh38
NC_000008.10:g.61773702T>C , CM000670.1:g.61773702T>C	GRCh37
NC_000008.9:g.61936256T>C	NCBI36
NG_007009.1:g.187364T>C , LRG_176:g.187364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1006+18T>C
ENST00000695851.1:n.210+18T>C
ENST00000695853.1:c.*889+18T>C	ENSP00000512218.1:n.*889+18T>C
ENST00000423902.7:c.7830+18T>C MANE Select	ENSP00000392028.1:n.7830+18T>C
ENST00000423902.6:c.7830+18T>C	ENSP00000392028.1:n.7830+18T>C
ENST00000524602.5:c.1717-1086T>C	ENSP00000437061.1:n.1717-1086T>C
ENST00000531695.1:n.272T>C
ENST00000618450.1:n.240T>C
NM_001316690.1:c.1717-1086T>C	NP_001303619.1:n.1717-1086T>C
NM_017780.3:c.7830+18T>C	NP_060250.2:n.7830+18T>C
XM_011517553.1:c.7920+18T>C	XP_011515855.1:n.7920+18T>C
XM_011517554.1:c.7920+18T>C	XP_011515856.1:n.7920+18T>C
XM_011517555.1:c.7917+18T>C	XP_011515857.1:n.7917+18T>C
XM_011517556.1:c.7699-1053T>C	XP_011515858.1:n.7699-1053T>C
XM_011517557.1:c.5907+18T>C	XP_011515859.1:n.5907+18T>C
XM_011517558.1:c.5457+18T>C	XP_011515860.1:n.5457+18T>C
XM_011517559.1:c.4665+18T>C	XP_011515861.1:n.4665+18T>C
XM_011517553.2:c.7920+18T>C	XP_011515855.1:n.7920+18T>C
XM_011517554.3:c.7920+18T>C	XP_011515856.1:n.7920+18T>C
XM_011517555.2:c.7917+18T>C	XP_011515857.1:n.7917+18T>C
XM_017013612.1:c.7920+18T>C	XP_016869101.1:n.7920+18T>C
XM_017013613.1:c.7827+18T>C	XP_016869102.1:n.7827+18T>C
NM_017780.4:c.7830+18T>C MANE Select	NP_060250.2:n.7830+18T>C