Canonical Allele Identifier: CA4760863

Gene: CHD7

Linked Data

• ClinVar Variation Id: 696605
• ClinVar RCV Id: RCV002538921
• dbSNP Id: rs761548538
• ExAC: 8:61773534 C / T
• gnomAD v2: 8-61773534-C-T
• gnomAD v3: 8-60860975-C-T
• gnomAD v4: 8-60860975-C-T
• MyVariant Identifiers: chr8:g.61773534C>T (hg19) ; chr8:g.60860975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860975C>T , CM000670.2:g.60860975C>T	GRCh38
NC_000008.10:g.61773534C>T , CM000670.1:g.61773534C>T	GRCh37
NC_000008.9:g.61936088C>T	NCBI36
NG_007009.1:g.187196C>T , LRG_176:g.187196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.856C>T
ENST00000695851.1:n.60C>T
ENST00000695853.1:c.*739C>T	ENSP00000512218.1:n.*739C>T
ENST00000423902.7:c.7680C>T MANE Select	ENSP00000392028.1:p.Pro2560=
ENST00000423902.6:c.7680C>T	ENSP00000392028.1:p.Pro2560=
ENST00000524602.5:c.1717-1254C>T	ENSP00000437061.1:n.1717-1254C>T
ENST00000531695.1:n.104C>T
ENST00000618450.1:n.72C>T
NM_001316690.1:c.1717-1254C>T	NP_001303619.1:n.1717-1254C>T
NM_017780.3:c.7680C>T	NP_060250.2:p.Pro2560=
XM_011517553.1:c.7770C>T	XP_011515855.1:p.Pro2590=
XM_011517554.1:c.7770C>T	XP_011515856.1:p.Pro2590=
XM_011517555.1:c.7767C>T	XP_011515857.1:p.Pro2589=
XM_011517556.1:c.7699-1221C>T	XP_011515858.1:n.7699-1221C>T
XM_011517557.1:c.5757C>T	XP_011515859.1:p.Pro1919=
XM_011517558.1:c.5307C>T	XP_011515860.1:p.Pro1769=
XM_011517559.1:c.4515C>T	XP_011515861.1:p.Pro1505=
XM_011517553.2:c.7770C>T	XP_011515855.1:p.Pro2590=
XM_011517554.3:c.7770C>T	XP_011515856.1:p.Pro2590=
XM_011517555.2:c.7767C>T	XP_011515857.1:p.Pro2589=
XM_017013612.1:c.7770C>T	XP_016869101.1:p.Pro2590=
XM_017013613.1:c.7677C>T	XP_016869102.1:p.Pro2559=
NM_017780.4:c.7680C>T MANE Select	NP_060250.2:p.Pro2560=