Canonical Allele Identifier: CA4760774

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1474873
• ClinVar RCV Id: RCV001973704 ; RCV002492199
• dbSNP Id: rs770959300
• ExAC: 8:61769037 C / T
• gnomAD v2: 8-61769037-C-T
• gnomAD v3: 8-60856478-C-T
• gnomAD v4: 8-60856478-C-T
• COSMIC: COSM1100876
• MyVariant Identifiers: chr8:g.61769037C>T (hg19) ; chr8:g.61769037_61769040delinsTGGA (hg19) ; chr8:g.61769037_61769043delinsTGGAGGA (hg19) ; chr8:g.60856478C>T (hg38) ; chr8:g.60856478_60856481delinsTGGA (hg38) ; chr8:g.60856478_60856484delinsTGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856478C>T , CM000670.2:g.60856478C>T	GRCh38
NC_000008.10:g.61769037C>T , CM000670.1:g.61769037C>T	GRCh37
NC_000008.9:g.61931591C>T	NCBI36
NG_007009.1:g.182699C>T , LRG_176:g.182699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.374C>T
ENST00000695853.1:c.*257C>T	ENSP00000512218.1:n.*257C>T
ENST00000423902.7:c.7198C>T MANE Select	ENSP00000392028.1:p.Arg2400Trp
ENST00000423902.6:c.7198C>T	ENSP00000392028.1:p.Arg2400Trp
ENST00000524602.5:c.1717-5751C>T	ENSP00000437061.1:n.1717-5751C>T
ENST00000529472.1:n.379C>T
NM_001316690.1:c.1717-5751C>T	NP_001303619.1:n.1717-5751C>T
NM_017780.3:c.7198C>T	NP_060250.2:p.Arg2400Trp
XM_011517553.1:c.7288C>T	XP_011515855.1:p.Arg2430Trp
XM_011517554.1:c.7288C>T	XP_011515856.1:p.Arg2430Trp
XM_011517555.1:c.7285C>T	XP_011515857.1:p.Arg2429Trp
XM_011517556.1:c.7288C>T	XP_011515858.1:p.Arg2430Trp
XM_011517557.1:c.5275C>T	XP_011515859.1:p.Arg1759Trp
XM_011517558.1:c.4825C>T	XP_011515860.1:p.Arg1609Trp
XM_011517559.1:c.4033C>T	XP_011515861.1:p.Arg1345Trp
XM_011517553.2:c.7288C>T	XP_011515855.1:p.Arg2430Trp
XM_011517554.3:c.7288C>T	XP_011515856.1:p.Arg2430Trp
XM_011517555.2:c.7285C>T	XP_011515857.1:p.Arg2429Trp
XM_017013612.1:c.7288C>T	XP_016869101.1:p.Arg2430Trp
XM_017013613.1:c.7195C>T	XP_016869102.1:p.Arg2399Trp
NM_017780.4:c.7198C>T MANE Select	NP_060250.2:p.Arg2400Trp