Canonical Allele Identifier: CA4760765

Gene: CHD7

Linked Data

• ClinVar Variation Id: 286510
• ClinVar RCV Id: RCV000379770 ; RCV000586567 ; RCV001087063 ; RCV002311405 ; RCV003957457 ; RCV002502136
• dbSNP Id: rs376076407
• ExAC: 8:61768999 A / G
• gnomAD v2: 8-61768999-A-G
• gnomAD v3: 8-60856440-A-G
• gnomAD v4: 8-60856440-A-G
• MyVariant Identifiers: chr8:g.61768999A>G (hg19) ; chr8:g.60856440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856440A>G , CM000670.2:g.60856440A>G	GRCh38
NC_000008.10:g.61768999A>G , CM000670.1:g.61768999A>G	GRCh37
NC_000008.9:g.61931553A>G	NCBI36
NG_007009.1:g.182661A>G , LRG_176:g.182661A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.341-5A>G
ENST00000695853.1:c.*224-5A>G	ENSP00000512218.1:n.*224-5A>G
ENST00000423902.7:c.7165-5A>G MANE Select	ENSP00000392028.1:n.7165-5A>G
ENST00000423902.6:c.7165-5A>G	ENSP00000392028.1:n.7165-5A>G
ENST00000524602.5:c.1717-5789A>G	ENSP00000437061.1:n.1717-5789A>G
ENST00000529472.1:n.346-5A>G
NM_001316690.1:c.1717-5789A>G	NP_001303619.1:n.1717-5789A>G
NM_017780.3:c.7165-5A>G	NP_060250.2:n.7165-5A>G
XM_011517553.1:c.7255-5A>G	XP_011515855.1:n.7255-5A>G
XM_011517554.1:c.7255-5A>G	XP_011515856.1:n.7255-5A>G
XM_011517555.1:c.7252-5A>G	XP_011515857.1:n.7252-5A>G
XM_011517556.1:c.7255-5A>G	XP_011515858.1:n.7255-5A>G
XM_011517557.1:c.5242-5A>G	XP_011515859.1:n.5242-5A>G
XM_011517558.1:c.4792-5A>G	XP_011515860.1:n.4792-5A>G
XM_011517559.1:c.4000-5A>G	XP_011515861.1:n.4000-5A>G
XM_011517553.2:c.7255-5A>G	XP_011515855.1:n.7255-5A>G
XM_011517554.3:c.7255-5A>G	XP_011515856.1:n.7255-5A>G
XM_011517555.2:c.7252-5A>G	XP_011515857.1:n.7252-5A>G
XM_017013612.1:c.7255-5A>G	XP_016869101.1:n.7255-5A>G
XM_017013613.1:c.7162-5A>G	XP_016869102.1:n.7162-5A>G
NM_017780.4:c.7165-5A>G MANE Select	NP_060250.2:n.7165-5A>G