Canonical Allele Identifier: CA4760867

Gene: CHD7

Linked Data

• ClinVar Variation Id: 573550
• ClinVar RCV Id: RCV000695249 ; RCV000766025
• dbSNP Id: rs775888715
• ExAC: 8:61773556 C / T
• gnomAD v2: 8-61773556-C-T
• gnomAD v3: 8-60860997-C-T
• gnomAD v4: 8-60860997-C-T
• MyVariant Identifiers: chr8:g.61773556C>T (hg19) ; chr8:g.60860997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860997C>T , CM000670.2:g.60860997C>T	GRCh38
NC_000008.10:g.61773556C>T , CM000670.1:g.61773556C>T	GRCh37
NC_000008.9:g.61936110C>T	NCBI36
NG_007009.1:g.187218C>T , LRG_176:g.187218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.878C>T
ENST00000695851.1:n.82C>T
ENST00000695853.1:c.*761C>T	ENSP00000512218.1:n.*761C>T
ENST00000423902.7:c.7702C>T MANE Select	ENSP00000392028.1:p.Arg2568Trp
ENST00000423902.6:c.7702C>T	ENSP00000392028.1:p.Arg2568Trp
ENST00000524602.5:c.1717-1232C>T	ENSP00000437061.1:n.1717-1232C>T
ENST00000531695.1:n.126C>T
ENST00000618450.1:n.94C>T
NM_001316690.1:c.1717-1232C>T	NP_001303619.1:n.1717-1232C>T
NM_017780.3:c.7702C>T	NP_060250.2:p.Arg2568Trp
XM_011517553.1:c.7792C>T	XP_011515855.1:p.Arg2598Trp
XM_011517554.1:c.7792C>T	XP_011515856.1:p.Arg2598Trp
XM_011517555.1:c.7789C>T	XP_011515857.1:p.Arg2597Trp
XM_011517556.1:c.7699-1199C>T	XP_011515858.1:n.7699-1199C>T
XM_011517557.1:c.5779C>T	XP_011515859.1:p.Arg1927Trp
XM_011517558.1:c.5329C>T	XP_011515860.1:p.Arg1777Trp
XM_011517559.1:c.4537C>T	XP_011515861.1:p.Arg1513Trp
XM_011517553.2:c.7792C>T	XP_011515855.1:p.Arg2598Trp
XM_011517554.3:c.7792C>T	XP_011515856.1:p.Arg2598Trp
XM_011517555.2:c.7789C>T	XP_011515857.1:p.Arg2597Trp
XM_017013612.1:c.7792C>T	XP_016869101.1:p.Arg2598Trp
XM_017013613.1:c.7699C>T	XP_016869102.1:p.Arg2567Trp
NM_017780.4:c.7702C>T MANE Select	NP_060250.2:p.Arg2568Trp