Canonical Allele Identifier: CA1788130203

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865385T= , CM000670.2:g.60865385T=	GRCh38
NC_000008.10:g.61777944T= , CM000670.1:g.61777944T=	GRCh37
NC_000008.9:g.61940498T=	NCBI36
NG_007009.1:g.191606T= , LRG_176:g.191606T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1622T=
ENST00000695852.1:n.553T=
ENST00000695853.1:c.*1505T=	ENSP00000512218.1:n.*1505T=
ENST00000423902.7:c.8446T= MANE Select	ENSP00000392028.1:p.Leu2816=
ENST00000423902.6:c.8446T=	ENSP00000392028.1:p.Leu2816=
ENST00000524602.5:c.2299T=	ENSP00000437061.1:p.Leu767=
ENST00000528280.1:n.492T=
NM_001316690.1:c.2299T=	NP_001303619.1:p.Leu767=
NM_017780.3:c.8446T=	NP_060250.2:p.Leu2816=
XM_011517553.1:c.8536T=	XP_011515855.1:p.Leu2846=
XM_011517554.1:c.8536T=	XP_011515856.1:p.Leu2846=
XM_011517555.1:c.8533T=	XP_011515857.1:p.Leu2845=
XM_011517556.1:c.8314T=	XP_011515858.1:p.Leu2772=
XM_011517557.1:c.6523T=	XP_011515859.1:p.Leu2175=
XM_011517558.1:c.6073T=	XP_011515860.1:p.Leu2025=
XM_011517559.1:c.5281T=	XP_011515861.1:p.Leu1761=
XM_011517553.2:c.8536T=	XP_011515855.1:p.Leu2846=
XM_011517554.3:c.8536T=	XP_011515856.1:p.Leu2846=
XM_011517555.2:c.8533T=	XP_011515857.1:p.Leu2845=
XM_017013612.1:c.8536T=	XP_016869101.1:p.Leu2846=
XM_017013613.1:c.8443T=	XP_016869102.1:p.Leu2815=
NM_017780.4:c.8446T= MANE Select	NP_060250.2:p.Leu2816=