Canonical Allele Identifier: CA460846398

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860924-A-G
• MyVariant Identifiers: chr8:g.61773483A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860924A>G , CM000670.2:g.60860924A>G	GRCh38
NC_000008.10:g.61773483A>G , CM000670.1:g.61773483A>G	GRCh37
NC_000008.9:g.61936037A>G	NCBI36
NG_007009.1:g.187145A>G , LRG_176:g.187145A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.805A>G
ENST00000695851.1:n.9A>G
ENST00000695853.1:c.*688A>G	ENSP00000512218.1:n.*688A>G
ENST00000423902.7:c.7629A>G MANE Select	ENSP00000392028.1:p.Lys2543=
ENST00000423902.6:c.7629A>G	ENSP00000392028.1:p.Lys2543=
ENST00000524602.5:c.1717-1305A>G	ENSP00000437061.1:n.1717-1305A>G
ENST00000531695.1:n.53A>G
ENST00000618450.1:n.21A>G
NM_001316690.1:c.1717-1305A>G	NP_001303619.1:n.1717-1305A>G
NM_017780.3:c.7629A>G	NP_060250.2:p.Lys2543=
XM_011517553.1:c.7719A>G	XP_011515855.1:p.Lys2573=
XM_011517554.1:c.7719A>G	XP_011515856.1:p.Lys2573=
XM_011517555.1:c.7716A>G	XP_011515857.1:p.Lys2572=
XM_011517556.1:c.7699-1272A>G	XP_011515858.1:n.7699-1272A>G
XM_011517557.1:c.5706A>G	XP_011515859.1:p.Lys1902=
XM_011517558.1:c.5256A>G	XP_011515860.1:p.Lys1752=
XM_011517559.1:c.4464A>G	XP_011515861.1:p.Lys1488=
XM_011517553.2:c.7719A>G	XP_011515855.1:p.Lys2573=
XM_011517554.3:c.7719A>G	XP_011515856.1:p.Lys2573=
XM_011517555.2:c.7716A>G	XP_011515857.1:p.Lys2572=
XM_017013612.1:c.7719A>G	XP_016869101.1:p.Lys2573=
XM_017013613.1:c.7626A>G	XP_016869102.1:p.Lys2542=
NM_017780.4:c.7629A>G MANE Select	NP_060250.2:p.Lys2543=