Canonical Allele Identifier: CA1788133689

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848547T= , CM000670.2:g.60848547T=	GRCh38
NC_000008.10:g.61761106T= , CM000670.1:g.61761106T=	GRCh37
NC_000008.9:g.61923660T=	NCBI36
NG_007009.1:g.174768T= , LRG_176:g.174768T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5243T=	ENSP00000512218.1:p.Leu1748=
ENST00000423902.7:c.5243T= MANE Select	ENSP00000392028.1:p.Leu1748=
ENST00000423902.6:c.5243T=	ENSP00000392028.1:p.Leu1748=
ENST00000524602.5:c.1717-13682T=	ENSP00000437061.1:n.1717-13682T=
NM_001316690.1:c.1717-13682T=	NP_001303619.1:n.1717-13682T=
NM_017780.3:c.5243T=	NP_060250.2:p.Leu1748=
XM_011517553.1:c.5333T=	XP_011515855.1:p.Leu1778=
XM_011517554.1:c.5333T=	XP_011515856.1:p.Leu1778=
XM_011517555.1:c.5333T=	XP_011515857.1:p.Leu1778=
XM_011517556.1:c.5333T=	XP_011515858.1:p.Leu1778=
XM_011517557.1:c.3320T=	XP_011515859.1:p.Leu1107=
XM_011517558.1:c.2870T=	XP_011515860.1:p.Leu957=
XM_011517559.1:c.2078T=	XP_011515861.1:p.Leu693=
XM_011517553.2:c.5333T=	XP_011515855.1:p.Leu1778=
XM_011517554.3:c.5333T=	XP_011515856.1:p.Leu1778=
XM_011517555.2:c.5333T=	XP_011515857.1:p.Leu1778=
XM_017013612.1:c.5333T=	XP_016869101.1:p.Leu1778=
XM_017013613.1:c.5243T=	XP_016869102.1:p.Leu1748=
NM_017780.4:c.5243T= MANE Select	NP_060250.2:p.Leu1748=