Canonical Allele Identifier: CA461105840

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865246G>A , CM000670.2:g.60865246G>A	GRCh38
NC_000008.10:g.61777805G>A , CM000670.1:g.61777805G>A	GRCh37
NC_000008.9:g.61940359G>A	NCBI36
NG_007009.1:g.191467G>A , LRG_176:g.191467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1483G>A
ENST00000695852.1:n.414G>A
ENST00000695853.1:c.*1366G>A	ENSP00000512218.1:n.*1366G>A
ENST00000423902.7:c.8307G>A MANE Select	ENSP00000392028.1:p.Leu2769=
ENST00000423902.6:c.8307G>A	ENSP00000392028.1:p.Leu2769=
ENST00000524602.5:c.2160G>A	ENSP00000437061.1:p.Leu720=
ENST00000528280.1:n.353G>A
NM_001316690.1:c.2160G>A	NP_001303619.1:p.Leu720=
NM_017780.3:c.8307G>A	NP_060250.2:p.Leu2769=
XM_011517553.1:c.8397G>A	XP_011515855.1:p.Leu2799=
XM_011517554.1:c.8397G>A	XP_011515856.1:p.Leu2799=
XM_011517555.1:c.8394G>A	XP_011515857.1:p.Leu2798=
XM_011517556.1:c.8175G>A	XP_011515858.1:p.Leu2725=
XM_011517557.1:c.6384G>A	XP_011515859.1:p.Leu2128=
XM_011517558.1:c.5934G>A	XP_011515860.1:p.Leu1978=
XM_011517559.1:c.5142G>A	XP_011515861.1:p.Leu1714=
XM_011517553.2:c.8397G>A	XP_011515855.1:p.Leu2799=
XM_011517554.3:c.8397G>A	XP_011515856.1:p.Leu2799=
XM_011517555.2:c.8394G>A	XP_011515857.1:p.Leu2798=
XM_017013612.1:c.8397G>A	XP_016869101.1:p.Leu2799=
XM_017013613.1:c.8304G>A	XP_016869102.1:p.Leu2768=
NM_017780.4:c.8307G>A MANE Select	NP_060250.2:p.Leu2769=