Canonical Allele Identifier: CA1788130275

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865403G= , CM000670.2:g.60865403G=	GRCh38
NC_000008.10:g.61777962G= , CM000670.1:g.61777962G=	GRCh37
NC_000008.9:g.61940516G=	NCBI36
NG_007009.1:g.191624G= , LRG_176:g.191624G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1640G=
ENST00000695852.1:n.571G=
ENST00000695853.1:c.*1523G=	ENSP00000512218.1:n.*1523G=
ENST00000423902.7:c.8464G= MANE Select	ENSP00000392028.1:p.Ala2822=
ENST00000423902.6:c.8464G=	ENSP00000392028.1:p.Ala2822=
ENST00000524602.5:c.2317G=	ENSP00000437061.1:p.Ala773=
ENST00000528280.1:n.510G=
NM_001316690.1:c.2317G=	NP_001303619.1:p.Ala773=
NM_017780.3:c.8464G=	NP_060250.2:p.Ala2822=
XM_011517553.1:c.8554G=	XP_011515855.1:p.Ala2852=
XM_011517554.1:c.8554G=	XP_011515856.1:p.Ala2852=
XM_011517555.1:c.8551G=	XP_011515857.1:p.Ala2851=
XM_011517556.1:c.8332G=	XP_011515858.1:p.Ala2778=
XM_011517557.1:c.6541G=	XP_011515859.1:p.Ala2181=
XM_011517558.1:c.6091G=	XP_011515860.1:p.Ala2031=
XM_011517559.1:c.5299G=	XP_011515861.1:p.Ala1767=
XM_011517553.2:c.8554G=	XP_011515855.1:p.Ala2852=
XM_011517554.3:c.8554G=	XP_011515856.1:p.Ala2852=
XM_011517555.2:c.8551G=	XP_011515857.1:p.Ala2851=
XM_017013612.1:c.8554G=	XP_016869101.1:p.Ala2852=
XM_017013613.1:c.8461G=	XP_016869102.1:p.Ala2821=
NM_017780.4:c.8464G= MANE Select	NP_060250.2:p.Ala2822=