Canonical Allele Identifier: CA371324574

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2486590
• ClinVar RCV Id: RCV003210578
• gnomAD v4: 8-60852984-C-A
• MyVariant Identifiers: chr8:g.61765543C>A (hg19) ; chr8:g.60852984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852984C>A , CM000670.2:g.60852984C>A	GRCh38
NC_000008.10:g.61765543C>A , CM000670.1:g.61765543C>A	GRCh37
NC_000008.9:g.61928097C>A	NCBI36
NG_007009.1:g.179205C>A , LRG_176:g.179205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6259C>A	ENSP00000512218.1:p.Leu2087Met
ENST00000423902.7:c.6259C>A MANE Select	ENSP00000392028.1:p.Leu2087Met
ENST00000423902.6:c.6259C>A	ENSP00000392028.1:p.Leu2087Met
ENST00000524602.5:c.1717-9245C>A	ENSP00000437061.1:n.1717-9245C>A
NM_001316690.1:c.1717-9245C>A	NP_001303619.1:n.1717-9245C>A
NM_017780.3:c.6259C>A	NP_060250.2:p.Leu2087Met
XM_011517553.1:c.6349C>A	XP_011515855.1:p.Leu2117Met
XM_011517554.1:c.6349C>A	XP_011515856.1:p.Leu2117Met
XM_011517555.1:c.6349C>A	XP_011515857.1:p.Leu2117Met
XM_011517556.1:c.6349C>A	XP_011515858.1:p.Leu2117Met
XM_011517557.1:c.4336C>A	XP_011515859.1:p.Leu1446Met
XM_011517558.1:c.3886C>A	XP_011515860.1:p.Leu1296Met
XM_011517559.1:c.3094C>A	XP_011515861.1:p.Leu1032Met
XM_011517553.2:c.6349C>A	XP_011515855.1:p.Leu2117Met
XM_011517554.3:c.6349C>A	XP_011515856.1:p.Leu2117Met
XM_011517555.2:c.6349C>A	XP_011515857.1:p.Leu2117Met
XM_017013612.1:c.6349C>A	XP_016869101.1:p.Leu2117Met
XM_017013613.1:c.6259C>A	XP_016869102.1:p.Leu2087Met
NM_017780.4:c.6259C>A MANE Select	NP_060250.2:p.Leu2087Met