Canonical Allele Identifier: CA177329414

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1977906
• ClinVar RCV Id: RCV002774921
• dbSNP Id: rs553548797
• gnomAD v2: 8-61777881-G-A
• gnomAD v3: 8-60865322-G-A
• gnomAD v4: 8-60865322-G-A
• MyVariant Identifiers: chr8:g.61777881G>A (hg19) ; chr8:g.60865322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865322G>A , CM000670.2:g.60865322G>A	GRCh38
NC_000008.10:g.61777881G>A , CM000670.1:g.61777881G>A	GRCh37
NC_000008.9:g.61940435G>A	NCBI36
NG_007009.1:g.191543G>A , LRG_176:g.191543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1559G>A
ENST00000695852.1:n.490G>A
ENST00000695853.1:c.*1442G>A	ENSP00000512218.1:n.*1442G>A
ENST00000423902.7:c.8383G>A MANE Select	ENSP00000392028.1:p.Val2795Met
ENST00000423902.6:c.8383G>A	ENSP00000392028.1:p.Val2795Met
ENST00000524602.5:c.2236G>A	ENSP00000437061.1:p.Val746Met
ENST00000528280.1:n.429G>A
NM_001316690.1:c.2236G>A	NP_001303619.1:p.Val746Met
NM_017780.3:c.8383G>A	NP_060250.2:p.Val2795Met
XM_011517553.1:c.8473G>A	XP_011515855.1:p.Val2825Met
XM_011517554.1:c.8473G>A	XP_011515856.1:p.Val2825Met
XM_011517555.1:c.8470G>A	XP_011515857.1:p.Val2824Met
XM_011517556.1:c.8251G>A	XP_011515858.1:p.Val2751Met
XM_011517557.1:c.6460G>A	XP_011515859.1:p.Val2154Met
XM_011517558.1:c.6010G>A	XP_011515860.1:p.Val2004Met
XM_011517559.1:c.5218G>A	XP_011515861.1:p.Val1740Met
XM_011517553.2:c.8473G>A	XP_011515855.1:p.Val2825Met
XM_011517554.3:c.8473G>A	XP_011515856.1:p.Val2825Met
XM_011517555.2:c.8470G>A	XP_011515857.1:p.Val2824Met
XM_017013612.1:c.8473G>A	XP_016869101.1:p.Val2825Met
XM_017013613.1:c.8380G>A	XP_016869102.1:p.Val2794Met
NM_017780.4:c.8383G>A MANE Select	NP_060250.2:p.Val2795Met