Canonical Allele Identifier: CA371304672

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773629T>G (hg19) ; chr8:g.60861070T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861070T>G , CM000670.2:g.60861070T>G	GRCh38
NC_000008.10:g.61773629T>G , CM000670.1:g.61773629T>G	GRCh37
NC_000008.9:g.61936183T>G	NCBI36
NG_007009.1:g.187291T>G , LRG_176:g.187291T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.951T>G
ENST00000695851.1:n.155T>G
ENST00000695853.1:c.*834T>G	ENSP00000512218.1:n.*834T>G
ENST00000423902.7:c.7775T>G MANE Select	ENSP00000392028.1:p.Val2592Gly
ENST00000423902.6:c.7775T>G	ENSP00000392028.1:p.Val2592Gly
ENST00000524602.5:c.1717-1159T>G	ENSP00000437061.1:n.1717-1159T>G
ENST00000531695.1:n.199T>G
ENST00000618450.1:n.167T>G
NM_001316690.1:c.1717-1159T>G	NP_001303619.1:n.1717-1159T>G
NM_017780.3:c.7775T>G	NP_060250.2:p.Val2592Gly
XM_011517553.1:c.7865T>G	XP_011515855.1:p.Val2622Gly
XM_011517554.1:c.7865T>G	XP_011515856.1:p.Val2622Gly
XM_011517555.1:c.7862T>G	XP_011515857.1:p.Val2621Gly
XM_011517556.1:c.7699-1126T>G	XP_011515858.1:n.7699-1126T>G
XM_011517557.1:c.5852T>G	XP_011515859.1:p.Val1951Gly
XM_011517558.1:c.5402T>G	XP_011515860.1:p.Val1801Gly
XM_011517559.1:c.4610T>G	XP_011515861.1:p.Val1537Gly
XM_011517553.2:c.7865T>G	XP_011515855.1:p.Val2622Gly
XM_011517554.3:c.7865T>G	XP_011515856.1:p.Val2622Gly
XM_011517555.2:c.7862T>G	XP_011515857.1:p.Val2621Gly
XM_017013612.1:c.7865T>G	XP_016869101.1:p.Val2622Gly
XM_017013613.1:c.7772T>G	XP_016869102.1:p.Val2591Gly
NM_017780.4:c.7775T>G MANE Select	NP_060250.2:p.Val2592Gly