Canonical Allele Identifier: CA371304215

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773488T>G (hg19) ; chr8:g.60860929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860929T>G , CM000670.2:g.60860929T>G	GRCh38
NC_000008.10:g.61773488T>G , CM000670.1:g.61773488T>G	GRCh37
NC_000008.9:g.61936042T>G	NCBI36
NG_007009.1:g.187150T>G , LRG_176:g.187150T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.810T>G
ENST00000695851.1:n.14T>G
ENST00000695853.1:c.*693T>G	ENSP00000512218.1:n.*693T>G
ENST00000423902.7:c.7634T>G MANE Select	ENSP00000392028.1:p.Phe2545Cys
ENST00000423902.6:c.7634T>G	ENSP00000392028.1:p.Phe2545Cys
ENST00000524602.5:c.1717-1300T>G	ENSP00000437061.1:n.1717-1300T>G
ENST00000531695.1:n.58T>G
ENST00000618450.1:n.26T>G
NM_001316690.1:c.1717-1300T>G	NP_001303619.1:n.1717-1300T>G
NM_017780.3:c.7634T>G	NP_060250.2:p.Phe2545Cys
XM_011517553.1:c.7724T>G	XP_011515855.1:p.Phe2575Cys
XM_011517554.1:c.7724T>G	XP_011515856.1:p.Phe2575Cys
XM_011517555.1:c.7721T>G	XP_011515857.1:p.Phe2574Cys
XM_011517556.1:c.7699-1267T>G	XP_011515858.1:n.7699-1267T>G
XM_011517557.1:c.5711T>G	XP_011515859.1:p.Phe1904Cys
XM_011517558.1:c.5261T>G	XP_011515860.1:p.Phe1754Cys
XM_011517559.1:c.4469T>G	XP_011515861.1:p.Phe1490Cys
XM_011517553.2:c.7724T>G	XP_011515855.1:p.Phe2575Cys
XM_011517554.3:c.7724T>G	XP_011515856.1:p.Phe2575Cys
XM_011517555.2:c.7721T>G	XP_011515857.1:p.Phe2574Cys
XM_017013612.1:c.7724T>G	XP_016869101.1:p.Phe2575Cys
XM_017013613.1:c.7631T>G	XP_016869102.1:p.Phe2544Cys
NM_017780.4:c.7634T>G MANE Select	NP_060250.2:p.Phe2545Cys