Canonical Allele Identifier: CA371308915

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865329-C-G
• MyVariant Identifiers: chr8:g.61777888C>G (hg19) ; chr8:g.60865329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865329C>G , CM000670.2:g.60865329C>G	GRCh38
NC_000008.10:g.61777888C>G , CM000670.1:g.61777888C>G	GRCh37
NC_000008.9:g.61940442C>G	NCBI36
NG_007009.1:g.191550C>G , LRG_176:g.191550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1566C>G
ENST00000695852.1:n.497C>G
ENST00000695853.1:c.*1449C>G	ENSP00000512218.1:n.*1449C>G
ENST00000423902.7:c.8390C>G MANE Select	ENSP00000392028.1:p.Pro2797Arg
ENST00000423902.6:c.8390C>G	ENSP00000392028.1:p.Pro2797Arg
ENST00000524602.5:c.2243C>G	ENSP00000437061.1:p.Pro748Arg
ENST00000528280.1:n.436C>G
NM_001316690.1:c.2243C>G	NP_001303619.1:p.Pro748Arg
NM_017780.3:c.8390C>G	NP_060250.2:p.Pro2797Arg
XM_011517553.1:c.8480C>G	XP_011515855.1:p.Pro2827Arg
XM_011517554.1:c.8480C>G	XP_011515856.1:p.Pro2827Arg
XM_011517555.1:c.8477C>G	XP_011515857.1:p.Pro2826Arg
XM_011517556.1:c.8258C>G	XP_011515858.1:p.Pro2753Arg
XM_011517557.1:c.6467C>G	XP_011515859.1:p.Pro2156Arg
XM_011517558.1:c.6017C>G	XP_011515860.1:p.Pro2006Arg
XM_011517559.1:c.5225C>G	XP_011515861.1:p.Pro1742Arg
XM_011517553.2:c.8480C>G	XP_011515855.1:p.Pro2827Arg
XM_011517554.3:c.8480C>G	XP_011515856.1:p.Pro2827Arg
XM_011517555.2:c.8477C>G	XP_011515857.1:p.Pro2826Arg
XM_017013612.1:c.8480C>G	XP_016869101.1:p.Pro2827Arg
XM_017013613.1:c.8387C>G	XP_016869102.1:p.Pro2796Arg
NM_017780.4:c.8390C>G MANE Select	NP_060250.2:p.Pro2797Arg