Canonical Allele Identifier: CA1788129343

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865163A= , CM000670.2:g.60865163A=	GRCh38
NC_000008.10:g.61777722A= , CM000670.1:g.61777722A=	GRCh37
NC_000008.9:g.61940276A=	NCBI36
NG_007009.1:g.191384A= , LRG_176:g.191384A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1400A=
ENST00000695852.1:n.331A=
ENST00000695853.1:c.*1283A=	ENSP00000512218.1:n.*1283A=
ENST00000423902.7:c.8224A= MANE Select	ENSP00000392028.1:p.Asn2742=
ENST00000423902.6:c.8224A=	ENSP00000392028.1:p.Asn2742=
ENST00000524602.5:c.2077A=	ENSP00000437061.1:p.Asn693=
ENST00000528280.1:n.270A=
NM_001316690.1:c.2077A=	NP_001303619.1:p.Asn693=
NM_017780.3:c.8224A=	NP_060250.2:p.Asn2742=
XM_011517553.1:c.8314A=	XP_011515855.1:p.Asn2772=
XM_011517554.1:c.8314A=	XP_011515856.1:p.Asn2772=
XM_011517555.1:c.8311A=	XP_011515857.1:p.Asn2771=
XM_011517556.1:c.8092A=	XP_011515858.1:p.Asn2698=
XM_011517557.1:c.6301A=	XP_011515859.1:p.Asn2101=
XM_011517558.1:c.5851A=	XP_011515860.1:p.Asn1951=
XM_011517559.1:c.5059A=	XP_011515861.1:p.Asn1687=
XM_011517553.2:c.8314A=	XP_011515855.1:p.Asn2772=
XM_011517554.3:c.8314A=	XP_011515856.1:p.Asn2772=
XM_011517555.2:c.8311A=	XP_011515857.1:p.Asn2771=
XM_017013612.1:c.8314A=	XP_016869101.1:p.Asn2772=
XM_017013613.1:c.8221A=	XP_016869102.1:p.Asn2741=
NM_017780.4:c.8224A= MANE Select	NP_060250.2:p.Asn2742=