Canonical Allele Identifier: CA461105134

Gene: CHD7

Linked Data

• ClinVar Variation Id: 3020003
• ClinVar RCV Id: RCV003877178
• gnomAD v4: 8-60852965-C-G
• MyVariant Identifiers: chr8:g.61765524C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852965C>G , CM000670.2:g.60852965C>G	GRCh38
NC_000008.10:g.61765524C>G , CM000670.1:g.61765524C>G	GRCh37
NC_000008.9:g.61928078C>G	NCBI36
NG_007009.1:g.179186C>G , LRG_176:g.179186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6240C>G	ENSP00000512218.1:p.Leu2080=
ENST00000423902.7:c.6240C>G MANE Select	ENSP00000392028.1:p.Leu2080=
ENST00000423902.6:c.6240C>G	ENSP00000392028.1:p.Leu2080=
ENST00000524602.5:c.1717-9264C>G	ENSP00000437061.1:n.1717-9264C>G
NM_001316690.1:c.1717-9264C>G	NP_001303619.1:n.1717-9264C>G
NM_017780.3:c.6240C>G	NP_060250.2:p.Leu2080=
XM_011517553.1:c.6330C>G	XP_011515855.1:p.Leu2110=
XM_011517554.1:c.6330C>G	XP_011515856.1:p.Leu2110=
XM_011517555.1:c.6330C>G	XP_011515857.1:p.Leu2110=
XM_011517556.1:c.6330C>G	XP_011515858.1:p.Leu2110=
XM_011517557.1:c.4317C>G	XP_011515859.1:p.Leu1439=
XM_011517558.1:c.3867C>G	XP_011515860.1:p.Leu1289=
XM_011517559.1:c.3075C>G	XP_011515861.1:p.Leu1025=
XM_011517553.2:c.6330C>G	XP_011515855.1:p.Leu2110=
XM_011517554.3:c.6330C>G	XP_011515856.1:p.Leu2110=
XM_011517555.2:c.6330C>G	XP_011515857.1:p.Leu2110=
XM_017013612.1:c.6330C>G	XP_016869101.1:p.Leu2110=
XM_017013613.1:c.6240C>G	XP_016869102.1:p.Leu2080=
NM_017780.4:c.6240C>G MANE Select	NP_060250.2:p.Leu2080=