Canonical Allele Identifier: CA461105893

Gene: CHD7

Linked Data

• ClinVar Variation Id: 516041
• ClinVar RCV Id: RCV000608863
• dbSNP Id: rs1358340358
• gnomAD v2: 8-61777832-A-T
• gnomAD v4: 8-60865273-A-T
• MyVariant Identifiers: chr8:g.61777832A>T (hg19) ; chr8:g.60865273A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865273A>T , CM000670.2:g.60865273A>T	GRCh38
NC_000008.10:g.61777832A>T , CM000670.1:g.61777832A>T	GRCh37
NC_000008.9:g.61940386A>T	NCBI36
NG_007009.1:g.191494A>T , LRG_176:g.191494A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1510A>T
ENST00000695852.1:n.441A>T
ENST00000695853.1:c.*1393A>T	ENSP00000512218.1:n.*1393A>T
ENST00000423902.7:c.8334A>T MANE Select	ENSP00000392028.1:p.Gly2778=
ENST00000423902.6:c.8334A>T	ENSP00000392028.1:p.Gly2778=
ENST00000524602.5:c.2187A>T	ENSP00000437061.1:p.Gly729=
ENST00000528280.1:n.380A>T
NM_001316690.1:c.2187A>T	NP_001303619.1:p.Gly729=
NM_017780.3:c.8334A>T	NP_060250.2:p.Gly2778=
XM_011517553.1:c.8424A>T	XP_011515855.1:p.Gly2808=
XM_011517554.1:c.8424A>T	XP_011515856.1:p.Gly2808=
XM_011517555.1:c.8421A>T	XP_011515857.1:p.Gly2807=
XM_011517556.1:c.8202A>T	XP_011515858.1:p.Gly2734=
XM_011517557.1:c.6411A>T	XP_011515859.1:p.Gly2137=
XM_011517558.1:c.5961A>T	XP_011515860.1:p.Gly1987=
XM_011517559.1:c.5169A>T	XP_011515861.1:p.Gly1723=
XM_011517553.2:c.8424A>T	XP_011515855.1:p.Gly2808=
XM_011517554.3:c.8424A>T	XP_011515856.1:p.Gly2808=
XM_011517555.2:c.8421A>T	XP_011515857.1:p.Gly2807=
XM_017013612.1:c.8424A>T	XP_016869101.1:p.Gly2808=
XM_017013613.1:c.8331A>T	XP_016869102.1:p.Gly2777=
NM_017780.4:c.8334A>T MANE Select	NP_060250.2:p.Gly2778=