Canonical Allele Identifier: CA2780535790

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852814C>A , CM000670.2:g.60852814C>A	GRCh38
NC_000008.10:g.61765373C>A , CM000670.1:g.61765373C>A	GRCh37
NC_000008.9:g.61927927C>A	NCBI36
NG_007009.1:g.179035C>A , LRG_176:g.179035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6104-15C>A	ENSP00000512218.1:n.6104-15C>A
ENST00000423902.7:c.6104-15C>A MANE Select	ENSP00000392028.1:n.6104-15C>A
ENST00000423902.6:c.6104-15C>A	ENSP00000392028.1:n.6104-15C>A
ENST00000524602.5:c.1717-9415C>A	ENSP00000437061.1:n.1717-9415C>A
NM_001316690.1:c.1717-9415C>A	NP_001303619.1:n.1717-9415C>A
NM_017780.3:c.6104-15C>A	NP_060250.2:n.6104-15C>A
XM_011517553.1:c.6194-15C>A	XP_011515855.1:n.6194-15C>A
XM_011517554.1:c.6194-15C>A	XP_011515856.1:n.6194-15C>A
XM_011517555.1:c.6194-15C>A	XP_011515857.1:n.6194-15C>A
XM_011517556.1:c.6194-15C>A	XP_011515858.1:n.6194-15C>A
XM_011517557.1:c.4181-15C>A	XP_011515859.1:n.4181-15C>A
XM_011517558.1:c.3731-15C>A	XP_011515860.1:n.3731-15C>A
XM_011517559.1:c.2939-15C>A	XP_011515861.1:n.2939-15C>A
XM_011517553.2:c.6194-15C>A	XP_011515855.1:n.6194-15C>A
XM_011517554.3:c.6194-15C>A	XP_011515856.1:n.6194-15C>A
XM_011517555.2:c.6194-15C>A	XP_011515857.1:n.6194-15C>A
XM_017013612.1:c.6194-15C>A	XP_016869101.1:n.6194-15C>A
XM_017013613.1:c.6104-15C>A	XP_016869102.1:n.6104-15C>A
NM_017780.4:c.6104-15C>A MANE Select	NP_060250.2:n.6104-15C>A