Canonical Allele Identifier: CA371307800

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777721C>G (hg19) ; chr8:g.60865162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865162C>G , CM000670.2:g.60865162C>G	GRCh38
NC_000008.10:g.61777721C>G , CM000670.1:g.61777721C>G	GRCh37
NC_000008.9:g.61940275C>G	NCBI36
NG_007009.1:g.191383C>G , LRG_176:g.191383C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1399C>G
ENST00000695852.1:n.330C>G
ENST00000695853.1:c.*1282C>G	ENSP00000512218.1:n.*1282C>G
ENST00000423902.7:c.8223C>G MANE Select	ENSP00000392028.1:p.Ile2741Met
ENST00000423902.6:c.8223C>G	ENSP00000392028.1:p.Ile2741Met
ENST00000524602.5:c.2076C>G	ENSP00000437061.1:p.Ile692Met
ENST00000528280.1:n.269C>G
NM_001316690.1:c.2076C>G	NP_001303619.1:p.Ile692Met
NM_017780.3:c.8223C>G	NP_060250.2:p.Ile2741Met
XM_011517553.1:c.8313C>G	XP_011515855.1:p.Ile2771Met
XM_011517554.1:c.8313C>G	XP_011515856.1:p.Ile2771Met
XM_011517555.1:c.8310C>G	XP_011515857.1:p.Ile2770Met
XM_011517556.1:c.8091C>G	XP_011515858.1:p.Ile2697Met
XM_011517557.1:c.6300C>G	XP_011515859.1:p.Ile2100Met
XM_011517558.1:c.5850C>G	XP_011515860.1:p.Ile1950Met
XM_011517559.1:c.5058C>G	XP_011515861.1:p.Ile1686Met
XM_011517553.2:c.8313C>G	XP_011515855.1:p.Ile2771Met
XM_011517554.3:c.8313C>G	XP_011515856.1:p.Ile2771Met
XM_011517555.2:c.8310C>G	XP_011515857.1:p.Ile2770Met
XM_017013612.1:c.8313C>G	XP_016869101.1:p.Ile2771Met
XM_017013613.1:c.8220C>G	XP_016869102.1:p.Ile2740Met
NM_017780.4:c.8223C>G MANE Select	NP_060250.2:p.Ile2741Met