Canonical Allele Identifier: CA371304269

Gene: CHD7

Linked Data

• dbSNP Id: rs1430755213
• gnomAD v2: 8-61773499-A-G
• gnomAD v4: 8-60860940-A-G
• MyVariant Identifiers: chr8:g.61773499A>G (hg19) ; chr8:g.60860940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860940A>G , CM000670.2:g.60860940A>G	GRCh38
NC_000008.10:g.61773499A>G , CM000670.1:g.61773499A>G	GRCh37
NC_000008.9:g.61936053A>G	NCBI36
NG_007009.1:g.187161A>G , LRG_176:g.187161A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.821A>G
ENST00000695851.1:n.25A>G
ENST00000695853.1:c.*704A>G	ENSP00000512218.1:n.*704A>G
ENST00000423902.7:c.7645A>G MANE Select	ENSP00000392028.1:p.Ile2549Val
ENST00000423902.6:c.7645A>G	ENSP00000392028.1:p.Ile2549Val
ENST00000524602.5:c.1717-1289A>G	ENSP00000437061.1:n.1717-1289A>G
ENST00000531695.1:n.69A>G
ENST00000618450.1:n.37A>G
NM_001316690.1:c.1717-1289A>G	NP_001303619.1:n.1717-1289A>G
NM_017780.3:c.7645A>G	NP_060250.2:p.Ile2549Val
XM_011517553.1:c.7735A>G	XP_011515855.1:p.Ile2579Val
XM_011517554.1:c.7735A>G	XP_011515856.1:p.Ile2579Val
XM_011517555.1:c.7732A>G	XP_011515857.1:p.Ile2578Val
XM_011517556.1:c.7699-1256A>G	XP_011515858.1:n.7699-1256A>G
XM_011517557.1:c.5722A>G	XP_011515859.1:p.Ile1908Val
XM_011517558.1:c.5272A>G	XP_011515860.1:p.Ile1758Val
XM_011517559.1:c.4480A>G	XP_011515861.1:p.Ile1494Val
XM_011517553.2:c.7735A>G	XP_011515855.1:p.Ile2579Val
XM_011517554.3:c.7735A>G	XP_011515856.1:p.Ile2579Val
XM_011517555.2:c.7732A>G	XP_011515857.1:p.Ile2578Val
XM_017013612.1:c.7735A>G	XP_016869101.1:p.Ile2579Val
XM_017013613.1:c.7642A>G	XP_016869102.1:p.Ile2548Val
NM_017780.4:c.7645A>G MANE Select	NP_060250.2:p.Ile2549Val