Canonical Allele Identifier: CA16618685

Gene: CHD7

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60862244C>T , CM000670.2:g.60862244C>T	GRCh38
NC_000008.10:g.61774803C>T , CM000670.1:g.61774803C>T	GRCh37
NC_000008.9:g.61937357C>T	NCBI36
NG_007009.1:g.188465C>T , LRG_176:g.188465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1055C>T
ENST00000695851.1:n.259C>T
ENST00000695853.1:c.*938C>T	ENSP00000512218.1:n.*938C>T
ENST00000423902.7:c.7879C>T MANE Select	ENSP00000392028.1:p.Arg2627Ter
ENST00000423902.6:c.7879C>T	ENSP00000392028.1:p.Arg2627Ter
ENST00000524602.5:c.1732C>T	ENSP00000437061.1:p.Arg578Ter
ENST00000532149.1:n.301C>T
ENST00000618450.1:n.1341C>T
NM_001316690.1:c.1732C>T	NP_001303619.1:p.Arg578Ter
NM_017780.3:c.7879C>T	NP_060250.2:p.Arg2627Ter
XM_011517553.1:c.7969C>T	XP_011515855.1:p.Arg2657Ter
XM_011517554.1:c.7969C>T	XP_011515856.1:p.Arg2657Ter
XM_011517555.1:c.7966C>T	XP_011515857.1:p.Arg2656Ter
XM_011517556.1:c.7747C>T	XP_011515858.1:p.Arg2583Ter
XM_011517557.1:c.5956C>T	XP_011515859.1:p.Arg1986Ter
XM_011517558.1:c.5506C>T	XP_011515860.1:p.Arg1836Ter
XM_011517559.1:c.4714C>T	XP_011515861.1:p.Arg1572Ter
XM_011517553.2:c.7969C>T	XP_011515855.1:p.Arg2657Ter
XM_011517554.3:c.7969C>T	XP_011515856.1:p.Arg2657Ter
XM_011517555.2:c.7966C>T	XP_011515857.1:p.Arg2656Ter
XM_017013612.1:c.7969C>T	XP_016869101.1:p.Arg2657Ter
XM_017013613.1:c.7876C>T	XP_016869102.1:p.Arg2626Ter
NM_017780.4:c.7879C>T MANE Select	NP_060250.2:p.Arg2627Ter