Canonical Allele Identifier: CA371323903

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61765164C>A (hg19) ; chr8:g.60852605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852605C>A , CM000670.2:g.60852605C>A	GRCh38
NC_000008.10:g.61765164C>A , CM000670.1:g.61765164C>A	GRCh37
NC_000008.9:g.61927718C>A	NCBI36
NG_007009.1:g.178826C>A , LRG_176:g.178826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6002C>A	ENSP00000512218.1:p.Ala2001Asp
ENST00000423902.7:c.6002C>A MANE Select	ENSP00000392028.1:p.Ala2001Asp
ENST00000423902.6:c.6002C>A	ENSP00000392028.1:p.Ala2001Asp
ENST00000524602.5:c.1717-9624C>A	ENSP00000437061.1:n.1717-9624C>A
ENST00000527921.1:n.493C>A
NM_001316690.1:c.1717-9624C>A	NP_001303619.1:n.1717-9624C>A
NM_017780.3:c.6002C>A	NP_060250.2:p.Ala2001Asp
XM_011517553.1:c.6092C>A	XP_011515855.1:p.Ala2031Asp
XM_011517554.1:c.6092C>A	XP_011515856.1:p.Ala2031Asp
XM_011517555.1:c.6092C>A	XP_011515857.1:p.Ala2031Asp
XM_011517556.1:c.6092C>A	XP_011515858.1:p.Ala2031Asp
XM_011517557.1:c.4079C>A	XP_011515859.1:p.Ala1360Asp
XM_011517558.1:c.3629C>A	XP_011515860.1:p.Ala1210Asp
XM_011517559.1:c.2837C>A	XP_011515861.1:p.Ala946Asp
XM_011517553.2:c.6092C>A	XP_011515855.1:p.Ala2031Asp
XM_011517554.3:c.6092C>A	XP_011515856.1:p.Ala2031Asp
XM_011517555.2:c.6092C>A	XP_011515857.1:p.Ala2031Asp
XM_017013612.1:c.6092C>A	XP_016869101.1:p.Ala2031Asp
XM_017013613.1:c.6002C>A	XP_016869102.1:p.Ala2001Asp
NM_017780.4:c.6002C>A MANE Select	NP_060250.2:p.Ala2001Asp