Canonical Allele Identifier: CA4759634

Gene: CHD7

Linked Data

• ClinVar Variation Id: 363451
• ClinVar RCV Id: RCV000336301 ; RCV000388532
• dbSNP Id: rs552946889
• ExAC: 8:61707637 C / T
• gnomAD v2: 8-61707637-C-T
• gnomAD v3: 8-60795078-C-T
• gnomAD v4: 8-60795078-C-T
• MyVariant Identifiers: chr8:g.61707637C>T (hg19) ; chr8:g.60795078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60795078C>T , CM000670.2:g.60795078C>T	GRCh38
NC_000008.10:g.61707637C>T , CM000670.1:g.61707637C>T	GRCh37
NC_000008.9:g.61870191C>T	NCBI36
NG_007009.1:g.121299C>T , LRG_176:g.121299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2702C>T
ENST00000695849.1:n.2702C>T
ENST00000695853.1:c.2189C>T	ENSP00000512218.1:p.Thr730Ile
ENST00000423902.7:c.2189C>T MANE Select	ENSP00000392028.1:p.Thr730Ile
ENST00000423902.6:c.2189C>T	ENSP00000392028.1:p.Thr730Ile
ENST00000524602.5:c.1716+14028C>T	ENSP00000437061.1:n.1716+14028C>T
ENST00000525508.1:c.2189C>T	ENSP00000436027.1:p.Thr730Ile
ENST00000527900.1:c.210C>T	ENSP00000433336.1:n.210C>T
NM_001316690.1:c.1716+14028C>T	NP_001303619.1:n.1716+14028C>T
NM_017780.3:c.2189C>T	NP_060250.2:p.Thr730Ile
XM_011517553.1:c.2189C>T	XP_011515855.1:p.Thr730Ile
XM_011517554.1:c.2189C>T	XP_011515856.1:p.Thr730Ile
XM_011517555.1:c.2189C>T	XP_011515857.1:p.Thr730Ile
XM_011517556.1:c.2189C>T	XP_011515858.1:p.Thr730Ile
XM_011517557.1:c.176C>T	XP_011515859.1:p.Thr59Ile
XM_011517560.1:c.2189C>T	XP_011515862.1:p.Thr730Ile
XM_011517553.2:c.2189C>T	XP_011515855.1:p.Thr730Ile
XM_011517554.3:c.2189C>T	XP_011515856.1:p.Thr730Ile
XM_011517555.2:c.2189C>T	XP_011515857.1:p.Thr730Ile
XM_011517560.2:c.2189C>T	XP_011515862.1:p.Thr730Ile
XM_017013612.1:c.2189C>T	XP_016869101.1:p.Thr730Ile
XM_017013613.1:c.2189C>T	XP_016869102.1:p.Thr730Ile
NM_017780.4:c.2189C>T MANE Select	NP_060250.2:p.Thr730Ile