Canonical Allele Identifier: CA177343651

Gene: CHD7

Linked Data

• dbSNP Id: rs779834884
• gnomAD v3: 8-60836013-AT-A
• gnomAD v4: 8-60836013-AT-A
• MyVariant Identifiers: chr8:g.61748573del (hg19) ; chr8:g.60836014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60836015del , CM000670.2:g.60836015del	GRCh38
NC_000008.10:g.61748574del , CM000670.1:g.61748574del	GRCh37
NC_000008.9:g.61911128del	NCBI36
NG_007009.1:g.162236del , LRG_176:g.162236del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.3779-58del	ENSP00000512218.1:n.3779-58del
ENST00000423902.7:c.3779-58del MANE Select	ENSP00000392028.1:n.3779-58del
ENST00000423902.6:c.3779-58del	ENSP00000392028.1:n.3779-58del
ENST00000524602.5:c.1717-26214del	ENSP00000437061.1:n.1717-26214del
NM_001316690.1:c.1717-26214del	NP_001303619.1:n.1717-26214del
NM_017780.3:c.3779-58del	NP_060250.2:n.3779-58del
XM_011517553.1:c.3779-58del	XP_011515855.1:n.3779-58del
XM_011517554.1:c.3779-58del	XP_011515856.1:n.3779-58del
XM_011517555.1:c.3779-58del	XP_011515857.1:n.3779-58del
XM_011517556.1:c.3779-58del	XP_011515858.1:n.3779-58del
XM_011517557.1:c.1766-58del	XP_011515859.1:n.1766-58del
XM_011517558.1:c.1316-58del	XP_011515860.1:n.1316-58del
XM_011517559.1:c.524-58del	XP_011515861.1:n.524-58del
XM_011517560.1:c.3779-58del	XP_011515862.1:n.3779-58del
XM_011517553.2:c.3779-58del	XP_011515855.1:n.3779-58del
XM_011517554.3:c.3779-58del	XP_011515856.1:n.3779-58del
XM_011517555.2:c.3779-58del	XP_011515857.1:n.3779-58del
XM_011517560.2:c.3779-58del	XP_011515862.1:n.3779-58del
XM_017013612.1:c.3779-58del	XP_016869101.1:n.3779-58del
XM_017013613.1:c.3779-58del	XP_016869102.1:n.3779-58del
NM_017780.4:c.3779-58del MANE Select	NP_060250.2:n.3779-58del