Canonical Allele Identifier: CA371304720

Gene: CHD7

Linked Data

• gnomAD v4: 8-60861093-A-C
• MyVariant Identifiers: chr8:g.61773652A>C (hg19) ; chr8:g.60861093A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861093A>C , CM000670.2:g.60861093A>C	GRCh38
NC_000008.10:g.61773652A>C , CM000670.1:g.61773652A>C	GRCh37
NC_000008.9:g.61936206A>C	NCBI36
NG_007009.1:g.187314A>C , LRG_176:g.187314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.974A>C
ENST00000695851.1:n.178A>C
ENST00000695853.1:c.*857A>C	ENSP00000512218.1:n.*857A>C
ENST00000423902.7:c.7798A>C MANE Select	ENSP00000392028.1:p.Thr2600Pro
ENST00000423902.6:c.7798A>C	ENSP00000392028.1:p.Thr2600Pro
ENST00000524602.5:c.1717-1136A>C	ENSP00000437061.1:n.1717-1136A>C
ENST00000531695.1:n.222A>C
ENST00000618450.1:n.190A>C
NM_001316690.1:c.1717-1136A>C	NP_001303619.1:n.1717-1136A>C
NM_017780.3:c.7798A>C	NP_060250.2:p.Thr2600Pro
XM_011517553.1:c.7888A>C	XP_011515855.1:p.Thr2630Pro
XM_011517554.1:c.7888A>C	XP_011515856.1:p.Thr2630Pro
XM_011517555.1:c.7885A>C	XP_011515857.1:p.Thr2629Pro
XM_011517556.1:c.7699-1103A>C	XP_011515858.1:n.7699-1103A>C
XM_011517557.1:c.5875A>C	XP_011515859.1:p.Thr1959Pro
XM_011517558.1:c.5425A>C	XP_011515860.1:p.Thr1809Pro
XM_011517559.1:c.4633A>C	XP_011515861.1:p.Thr1545Pro
XM_011517553.2:c.7888A>C	XP_011515855.1:p.Thr2630Pro
XM_011517554.3:c.7888A>C	XP_011515856.1:p.Thr2630Pro
XM_011517555.2:c.7885A>C	XP_011515857.1:p.Thr2629Pro
XM_017013612.1:c.7888A>C	XP_016869101.1:p.Thr2630Pro
XM_017013613.1:c.7795A>C	XP_016869102.1:p.Thr2599Pro
NM_017780.4:c.7798A>C MANE Select	NP_060250.2:p.Thr2600Pro