Canonical Allele Identifier: CA371307368

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2812048
• ClinVar RCV Id: RCV003604205
• gnomAD v4: 8-60865085-A-G
• MyVariant Identifiers: chr8:g.61777644A>G (hg19) ; chr8:g.60865085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865085A>G , CM000670.2:g.60865085A>G	GRCh38
NC_000008.10:g.61777644A>G , CM000670.1:g.61777644A>G	GRCh37
NC_000008.9:g.61940198A>G	NCBI36
NG_007009.1:g.191306A>G , LRG_176:g.191306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1322A>G
ENST00000695852.1:n.253A>G
ENST00000695853.1:c.*1205A>G	ENSP00000512218.1:n.*1205A>G
ENST00000423902.7:c.8146A>G MANE Select	ENSP00000392028.1:p.Arg2716Gly
ENST00000423902.6:c.8146A>G	ENSP00000392028.1:p.Arg2716Gly
ENST00000524602.5:c.1999A>G	ENSP00000437061.1:p.Arg667Gly
ENST00000528280.1:n.192A>G
ENST00000532149.1:n.568A>G
ENST00000618450.1:n.4182A>G
NM_001316690.1:c.1999A>G	NP_001303619.1:p.Arg667Gly
NM_017780.3:c.8146A>G	NP_060250.2:p.Arg2716Gly
XM_011517553.1:c.8236A>G	XP_011515855.1:p.Arg2746Gly
XM_011517554.1:c.8236A>G	XP_011515856.1:p.Arg2746Gly
XM_011517555.1:c.8233A>G	XP_011515857.1:p.Arg2745Gly
XM_011517556.1:c.8014A>G	XP_011515858.1:p.Arg2672Gly
XM_011517557.1:c.6223A>G	XP_011515859.1:p.Arg2075Gly
XM_011517558.1:c.5773A>G	XP_011515860.1:p.Arg1925Gly
XM_011517559.1:c.4981A>G	XP_011515861.1:p.Arg1661Gly
XM_011517553.2:c.8236A>G	XP_011515855.1:p.Arg2746Gly
XM_011517554.3:c.8236A>G	XP_011515856.1:p.Arg2746Gly
XM_011517555.2:c.8233A>G	XP_011515857.1:p.Arg2745Gly
XM_017013612.1:c.8236A>G	XP_016869101.1:p.Arg2746Gly
XM_017013613.1:c.8143A>G	XP_016869102.1:p.Arg2715Gly
NM_017780.4:c.8146A>G MANE Select	NP_060250.2:p.Arg2716Gly