Canonical Allele Identifier: CA460846532

Gene: CHD7

Linked Data

• gnomAD v4: 8-60861035-G-A
• MyVariant Identifiers: chr8:g.61773594G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861035G>A , CM000670.2:g.60861035G>A	GRCh38
NC_000008.10:g.61773594G>A , CM000670.1:g.61773594G>A	GRCh37
NC_000008.9:g.61936148G>A	NCBI36
NG_007009.1:g.187256G>A , LRG_176:g.187256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.916G>A
ENST00000695851.1:n.120G>A
ENST00000695853.1:c.*799G>A	ENSP00000512218.1:n.*799G>A
ENST00000423902.7:c.7740G>A MANE Select	ENSP00000392028.1:p.Leu2580=
ENST00000423902.6:c.7740G>A	ENSP00000392028.1:p.Leu2580=
ENST00000524602.5:c.1717-1194G>A	ENSP00000437061.1:n.1717-1194G>A
ENST00000531695.1:n.164G>A
ENST00000618450.1:n.132G>A
NM_001316690.1:c.1717-1194G>A	NP_001303619.1:n.1717-1194G>A
NM_017780.3:c.7740G>A	NP_060250.2:p.Leu2580=
XM_011517553.1:c.7830G>A	XP_011515855.1:p.Leu2610=
XM_011517554.1:c.7830G>A	XP_011515856.1:p.Leu2610=
XM_011517555.1:c.7827G>A	XP_011515857.1:p.Leu2609=
XM_011517556.1:c.7699-1161G>A	XP_011515858.1:n.7699-1161G>A
XM_011517557.1:c.5817G>A	XP_011515859.1:p.Leu1939=
XM_011517558.1:c.5367G>A	XP_011515860.1:p.Leu1789=
XM_011517559.1:c.4575G>A	XP_011515861.1:p.Leu1525=
XM_011517553.2:c.7830G>A	XP_011515855.1:p.Leu2610=
XM_011517554.3:c.7830G>A	XP_011515856.1:p.Leu2610=
XM_011517555.2:c.7827G>A	XP_011515857.1:p.Leu2609=
XM_017013612.1:c.7830G>A	XP_016869101.1:p.Leu2610=
XM_017013613.1:c.7737G>A	XP_016869102.1:p.Leu2579=
NM_017780.4:c.7740G>A MANE Select	NP_060250.2:p.Leu2580=