Canonical Allele Identifier: CA1788129366

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865176T= , CM000670.2:g.60865176T=	GRCh38
NC_000008.10:g.61777735T= , CM000670.1:g.61777735T=	GRCh37
NC_000008.9:g.61940289T=	NCBI36
NG_007009.1:g.191397T= , LRG_176:g.191397T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1413T=
ENST00000695852.1:n.344T=
ENST00000695853.1:c.*1296T=	ENSP00000512218.1:n.*1296T=
ENST00000423902.7:c.8237T= MANE Select	ENSP00000392028.1:p.Val2746=
ENST00000423902.6:c.8237T=	ENSP00000392028.1:p.Val2746=
ENST00000524602.5:c.2090T=	ENSP00000437061.1:p.Val697=
ENST00000528280.1:n.283T=
NM_001316690.1:c.2090T=	NP_001303619.1:p.Val697=
NM_017780.3:c.8237T=	NP_060250.2:p.Val2746=
XM_011517553.1:c.8327T=	XP_011515855.1:p.Val2776=
XM_011517554.1:c.8327T=	XP_011515856.1:p.Val2776=
XM_011517555.1:c.8324T=	XP_011515857.1:p.Val2775=
XM_011517556.1:c.8105T=	XP_011515858.1:p.Val2702=
XM_011517557.1:c.6314T=	XP_011515859.1:p.Val2105=
XM_011517558.1:c.5864T=	XP_011515860.1:p.Val1955=
XM_011517559.1:c.5072T=	XP_011515861.1:p.Val1691=
XM_011517553.2:c.8327T=	XP_011515855.1:p.Val2776=
XM_011517554.3:c.8327T=	XP_011515856.1:p.Val2776=
XM_011517555.2:c.8324T=	XP_011515857.1:p.Val2775=
XM_017013612.1:c.8327T=	XP_016869101.1:p.Val2776=
XM_017013613.1:c.8234T=	XP_016869102.1:p.Val2745=
NM_017780.4:c.8237T= MANE Select	NP_060250.2:p.Val2746=