Canonical Allele Identifier: CA371304773

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773675T>A (hg19) ; chr8:g.60861116T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861116T>A , CM000670.2:g.60861116T>A	GRCh38
NC_000008.10:g.61773675T>A , CM000670.1:g.61773675T>A	GRCh37
NC_000008.9:g.61936229T>A	NCBI36
NG_007009.1:g.187337T>A , LRG_176:g.187337T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.997T>A
ENST00000695851.1:n.201T>A
ENST00000695853.1:c.*880T>A	ENSP00000512218.1:n.*880T>A
ENST00000423902.7:c.7821T>A MANE Select	ENSP00000392028.1:p.Ser2607Arg
ENST00000423902.6:c.7821T>A	ENSP00000392028.1:p.Ser2607Arg
ENST00000524602.5:c.1717-1113T>A	ENSP00000437061.1:n.1717-1113T>A
ENST00000531695.1:n.245T>A
ENST00000618450.1:n.213T>A
NM_001316690.1:c.1717-1113T>A	NP_001303619.1:n.1717-1113T>A
NM_017780.3:c.7821T>A	NP_060250.2:p.Ser2607Arg
XM_011517553.1:c.7911T>A	XP_011515855.1:p.Ser2637Arg
XM_011517554.1:c.7911T>A	XP_011515856.1:p.Ser2637Arg
XM_011517555.1:c.7908T>A	XP_011515857.1:p.Ser2636Arg
XM_011517556.1:c.7699-1080T>A	XP_011515858.1:n.7699-1080T>A
XM_011517557.1:c.5898T>A	XP_011515859.1:p.Ser1966Arg
XM_011517558.1:c.5448T>A	XP_011515860.1:p.Ser1816Arg
XM_011517559.1:c.4656T>A	XP_011515861.1:p.Ser1552Arg
XM_011517553.2:c.7911T>A	XP_011515855.1:p.Ser2637Arg
XM_011517554.3:c.7911T>A	XP_011515856.1:p.Ser2637Arg
XM_011517555.2:c.7908T>A	XP_011515857.1:p.Ser2636Arg
XM_017013612.1:c.7911T>A	XP_016869101.1:p.Ser2637Arg
XM_017013613.1:c.7818T>A	XP_016869102.1:p.Ser2606Arg
NM_017780.4:c.7821T>A MANE Select	NP_060250.2:p.Ser2607Arg