Canonical Allele Identifier: CA461105803

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777790C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865231C>A , CM000670.2:g.60865231C>A	GRCh38
NC_000008.10:g.61777790C>A , CM000670.1:g.61777790C>A	GRCh37
NC_000008.9:g.61940344C>A	NCBI36
NG_007009.1:g.191452C>A , LRG_176:g.191452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1468C>A
ENST00000695852.1:n.399C>A
ENST00000695853.1:c.*1351C>A	ENSP00000512218.1:n.*1351C>A
ENST00000423902.7:c.8292C>A MANE Select	ENSP00000392028.1:p.Leu2764=
ENST00000423902.6:c.8292C>A	ENSP00000392028.1:p.Leu2764=
ENST00000524602.5:c.2145C>A	ENSP00000437061.1:p.Leu715=
ENST00000528280.1:n.338C>A
NM_001316690.1:c.2145C>A	NP_001303619.1:p.Leu715=
NM_017780.3:c.8292C>A	NP_060250.2:p.Leu2764=
XM_011517553.1:c.8382C>A	XP_011515855.1:p.Leu2794=
XM_011517554.1:c.8382C>A	XP_011515856.1:p.Leu2794=
XM_011517555.1:c.8379C>A	XP_011515857.1:p.Leu2793=
XM_011517556.1:c.8160C>A	XP_011515858.1:p.Leu2720=
XM_011517557.1:c.6369C>A	XP_011515859.1:p.Leu2123=
XM_011517558.1:c.5919C>A	XP_011515860.1:p.Leu1973=
XM_011517559.1:c.5127C>A	XP_011515861.1:p.Leu1709=
XM_011517553.2:c.8382C>A	XP_011515855.1:p.Leu2794=
XM_011517554.3:c.8382C>A	XP_011515856.1:p.Leu2794=
XM_011517555.2:c.8379C>A	XP_011515857.1:p.Leu2793=
XM_017013612.1:c.8382C>A	XP_016869101.1:p.Leu2794=
XM_017013613.1:c.8289C>A	XP_016869102.1:p.Leu2763=
NM_017780.4:c.8292C>A MANE Select	NP_060250.2:p.Leu2764=