Canonical Allele Identifier: CA1788130508

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865461C= , CM000670.2:g.60865461C=	GRCh38
NC_000008.10:g.61778020C= , CM000670.1:g.61778020C=	GRCh37
NC_000008.9:g.61940574C=	NCBI36
NG_007009.1:g.191682C= , LRG_176:g.191682C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1698C=
ENST00000695852.1:n.629C=
ENST00000695853.1:c.*1581C=	ENSP00000512218.1:n.*1581C=
ENST00000423902.7:c.8522C= MANE Select	ENSP00000392028.1:p.Ser2841=
ENST00000423902.6:c.8522C=	ENSP00000392028.1:p.Ser2841=
ENST00000524602.5:c.2375C=	ENSP00000437061.1:p.Ser792=
NM_001316690.1:c.2375C=	NP_001303619.1:p.Ser792=
NM_017780.3:c.8522C=	NP_060250.2:p.Ser2841=
XM_011517553.1:c.8612C=	XP_011515855.1:p.Ser2871=
XM_011517554.1:c.8612C=	XP_011515856.1:p.Ser2871=
XM_011517555.1:c.8609C=	XP_011515857.1:p.Ser2870=
XM_011517556.1:c.8390C=	XP_011515858.1:p.Ser2797=
XM_011517557.1:c.6599C=	XP_011515859.1:p.Ser2200=
XM_011517558.1:c.6149C=	XP_011515860.1:p.Ser2050=
XM_011517559.1:c.5357C=	XP_011515861.1:p.Ser1786=
XM_011517553.2:c.8612C=	XP_011515855.1:p.Ser2871=
XM_011517554.3:c.8612C=	XP_011515856.1:p.Ser2871=
XM_011517555.2:c.8609C=	XP_011515857.1:p.Ser2870=
XM_017013612.1:c.8612C=	XP_016869101.1:p.Ser2871=
XM_017013613.1:c.8519C=	XP_016869102.1:p.Ser2840=
NM_017780.4:c.8522C= MANE Select	NP_060250.2:p.Ser2841=