Canonical Allele Identifier: CA460846573

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773654T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861095T>C , CM000670.2:g.60861095T>C	GRCh38
NC_000008.10:g.61773654T>C , CM000670.1:g.61773654T>C	GRCh37
NC_000008.9:g.61936208T>C	NCBI36
NG_007009.1:g.187316T>C , LRG_176:g.187316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.976T>C
ENST00000695851.1:n.180T>C
ENST00000695853.1:c.*859T>C	ENSP00000512218.1:n.*859T>C
ENST00000423902.7:c.7800T>C MANE Select	ENSP00000392028.1:p.Thr2600=
ENST00000423902.6:c.7800T>C	ENSP00000392028.1:p.Thr2600=
ENST00000524602.5:c.1717-1134T>C	ENSP00000437061.1:n.1717-1134T>C
ENST00000531695.1:n.224T>C
ENST00000618450.1:n.192T>C
NM_001316690.1:c.1717-1134T>C	NP_001303619.1:n.1717-1134T>C
NM_017780.3:c.7800T>C	NP_060250.2:p.Thr2600=
XM_011517553.1:c.7890T>C	XP_011515855.1:p.Thr2630=
XM_011517554.1:c.7890T>C	XP_011515856.1:p.Thr2630=
XM_011517555.1:c.7887T>C	XP_011515857.1:p.Thr2629=
XM_011517556.1:c.7699-1101T>C	XP_011515858.1:n.7699-1101T>C
XM_011517557.1:c.5877T>C	XP_011515859.1:p.Thr1959=
XM_011517558.1:c.5427T>C	XP_011515860.1:p.Thr1809=
XM_011517559.1:c.4635T>C	XP_011515861.1:p.Thr1545=
XM_011517553.2:c.7890T>C	XP_011515855.1:p.Thr2630=
XM_011517554.3:c.7890T>C	XP_011515856.1:p.Thr2630=
XM_011517555.2:c.7887T>C	XP_011515857.1:p.Thr2629=
XM_017013612.1:c.7890T>C	XP_016869101.1:p.Thr2630=
XM_017013613.1:c.7797T>C	XP_016869102.1:p.Thr2599=
NM_017780.4:c.7800T>C MANE Select	NP_060250.2:p.Thr2600=