Canonical Allele Identifier: CA461105897

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777835G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865276G>T , CM000670.2:g.60865276G>T	GRCh38
NC_000008.10:g.61777835G>T , CM000670.1:g.61777835G>T	GRCh37
NC_000008.9:g.61940389G>T	NCBI36
NG_007009.1:g.191497G>T , LRG_176:g.191497G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1513G>T
ENST00000695852.1:n.444G>T
ENST00000695853.1:c.*1396G>T	ENSP00000512218.1:n.*1396G>T
ENST00000423902.7:c.8337G>T MANE Select	ENSP00000392028.1:p.Leu2779=
ENST00000423902.6:c.8337G>T	ENSP00000392028.1:p.Leu2779=
ENST00000524602.5:c.2190G>T	ENSP00000437061.1:p.Leu730=
ENST00000528280.1:n.383G>T
NM_001316690.1:c.2190G>T	NP_001303619.1:p.Leu730=
NM_017780.3:c.8337G>T	NP_060250.2:p.Leu2779=
XM_011517553.1:c.8427G>T	XP_011515855.1:p.Leu2809=
XM_011517554.1:c.8427G>T	XP_011515856.1:p.Leu2809=
XM_011517555.1:c.8424G>T	XP_011515857.1:p.Leu2808=
XM_011517556.1:c.8205G>T	XP_011515858.1:p.Leu2735=
XM_011517557.1:c.6414G>T	XP_011515859.1:p.Leu2138=
XM_011517558.1:c.5964G>T	XP_011515860.1:p.Leu1988=
XM_011517559.1:c.5172G>T	XP_011515861.1:p.Leu1724=
XM_011517553.2:c.8427G>T	XP_011515855.1:p.Leu2809=
XM_011517554.3:c.8427G>T	XP_011515856.1:p.Leu2809=
XM_011517555.2:c.8424G>T	XP_011515857.1:p.Leu2808=
XM_017013612.1:c.8427G>T	XP_016869101.1:p.Leu2809=
XM_017013613.1:c.8334G>T	XP_016869102.1:p.Leu2778=
NM_017780.4:c.8337G>T MANE Select	NP_060250.2:p.Leu2779=