Canonical Allele Identifier: CA460846545

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773609T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861050T>A , CM000670.2:g.60861050T>A	GRCh38
NC_000008.10:g.61773609T>A , CM000670.1:g.61773609T>A	GRCh37
NC_000008.9:g.61936163T>A	NCBI36
NG_007009.1:g.187271T>A , LRG_176:g.187271T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.931T>A
ENST00000695851.1:n.135T>A
ENST00000695853.1:c.*814T>A	ENSP00000512218.1:n.*814T>A
ENST00000423902.7:c.7755T>A MANE Select	ENSP00000392028.1:p.Ala2585=
ENST00000423902.6:c.7755T>A	ENSP00000392028.1:p.Ala2585=
ENST00000524602.5:c.1717-1179T>A	ENSP00000437061.1:n.1717-1179T>A
ENST00000531695.1:n.179T>A
ENST00000618450.1:n.147T>A
NM_001316690.1:c.1717-1179T>A	NP_001303619.1:n.1717-1179T>A
NM_017780.3:c.7755T>A	NP_060250.2:p.Ala2585=
XM_011517553.1:c.7845T>A	XP_011515855.1:p.Ala2615=
XM_011517554.1:c.7845T>A	XP_011515856.1:p.Ala2615=
XM_011517555.1:c.7842T>A	XP_011515857.1:p.Ala2614=
XM_011517556.1:c.7699-1146T>A	XP_011515858.1:n.7699-1146T>A
XM_011517557.1:c.5832T>A	XP_011515859.1:p.Ala1944=
XM_011517558.1:c.5382T>A	XP_011515860.1:p.Ala1794=
XM_011517559.1:c.4590T>A	XP_011515861.1:p.Ala1530=
XM_011517553.2:c.7845T>A	XP_011515855.1:p.Ala2615=
XM_011517554.3:c.7845T>A	XP_011515856.1:p.Ala2615=
XM_011517555.2:c.7842T>A	XP_011515857.1:p.Ala2614=
XM_017013612.1:c.7845T>A	XP_016869101.1:p.Ala2615=
XM_017013613.1:c.7752T>A	XP_016869102.1:p.Ala2584=
NM_017780.4:c.7755T>A MANE Select	NP_060250.2:p.Ala2585=