Canonical Allele Identifier: CA4760960

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2073337
• ClinVar RCV Id: RCV002944032 ; RCV003250664 ; RCV003906416
• dbSNP Id: rs749452262
• ExAC: 8:61777674 G / A
• gnomAD v2: 8-61777674-G-A
• gnomAD v4: 8-60865115-G-A
• MyVariant Identifiers: chr8:g.61777674G>A (hg19) ; chr8:g.60865115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865115G>A , CM000670.2:g.60865115G>A	GRCh38
NC_000008.10:g.61777674G>A , CM000670.1:g.61777674G>A	GRCh37
NC_000008.9:g.61940228G>A	NCBI36
NG_007009.1:g.191336G>A , LRG_176:g.191336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1352G>A
ENST00000695852.1:n.283G>A
ENST00000695853.1:c.*1235G>A	ENSP00000512218.1:n.*1235G>A
ENST00000423902.7:c.8176G>A MANE Select	ENSP00000392028.1:p.Ala2726Thr
ENST00000423902.6:c.8176G>A	ENSP00000392028.1:p.Ala2726Thr
ENST00000524602.5:c.2029G>A	ENSP00000437061.1:p.Ala677Thr
ENST00000528280.1:n.222G>A
ENST00000532149.1:n.598G>A
ENST00000618450.1:n.4212G>A
NM_001316690.1:c.2029G>A	NP_001303619.1:p.Ala677Thr
NM_017780.3:c.8176G>A	NP_060250.2:p.Ala2726Thr
XM_011517553.1:c.8266G>A	XP_011515855.1:p.Ala2756Thr
XM_011517554.1:c.8266G>A	XP_011515856.1:p.Ala2756Thr
XM_011517555.1:c.8263G>A	XP_011515857.1:p.Ala2755Thr
XM_011517556.1:c.8044G>A	XP_011515858.1:p.Ala2682Thr
XM_011517557.1:c.6253G>A	XP_011515859.1:p.Ala2085Thr
XM_011517558.1:c.5803G>A	XP_011515860.1:p.Ala1935Thr
XM_011517559.1:c.5011G>A	XP_011515861.1:p.Ala1671Thr
XM_011517553.2:c.8266G>A	XP_011515855.1:p.Ala2756Thr
XM_011517554.3:c.8266G>A	XP_011515856.1:p.Ala2756Thr
XM_011517555.2:c.8263G>A	XP_011515857.1:p.Ala2755Thr
XM_017013612.1:c.8266G>A	XP_016869101.1:p.Ala2756Thr
XM_017013613.1:c.8173G>A	XP_016869102.1:p.Ala2725Thr
NM_017780.4:c.8176G>A MANE Select	NP_060250.2:p.Ala2726Thr