Canonical Allele Identifier: CA4760972

Gene: CHD7

Linked Data

• ClinVar Variation Id: 379211
• ClinVar RCV Id: RCV000634450 ; RCV001162608 ; RCV001720013 ; RCV002429370 ; RCV003959884
• dbSNP Id: rs3750308
• ExAC: 8:61777748 T / G
• gnomAD v2: 8-61777748-T-G
• gnomAD v3: 8-60865189-T-G
• gnomAD v4: 8-60865189-T-G
• MyVariant Identifiers: chr8:g.61777748T>G (hg19) ; chr8:g.60865189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865189T>G , CM000670.2:g.60865189T>G	GRCh38
NC_000008.10:g.61777748T>G , CM000670.1:g.61777748T>G	GRCh37
NC_000008.9:g.61940302T>G	NCBI36
NG_007009.1:g.191410T>G , LRG_176:g.191410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1426T>G
ENST00000695852.1:n.357T>G
ENST00000695853.1:c.*1309T>G	ENSP00000512218.1:n.*1309T>G
ENST00000423902.7:c.8250T>G MANE Select	ENSP00000392028.1:p.Phe2750Leu
ENST00000423902.6:c.8250T>G	ENSP00000392028.1:p.Phe2750Leu
ENST00000524602.5:c.2103T>G	ENSP00000437061.1:p.Phe701Leu
ENST00000528280.1:n.296T>G
NM_001316690.1:c.2103T>G	NP_001303619.1:p.Phe701Leu
NM_017780.3:c.8250T>G	NP_060250.2:p.Phe2750Leu
XM_011517553.1:c.8340T>G	XP_011515855.1:p.Phe2780Leu
XM_011517554.1:c.8340T>G	XP_011515856.1:p.Phe2780Leu
XM_011517555.1:c.8337T>G	XP_011515857.1:p.Phe2779Leu
XM_011517556.1:c.8118T>G	XP_011515858.1:p.Phe2706Leu
XM_011517557.1:c.6327T>G	XP_011515859.1:p.Phe2109Leu
XM_011517558.1:c.5877T>G	XP_011515860.1:p.Phe1959Leu
XM_011517559.1:c.5085T>G	XP_011515861.1:p.Phe1695Leu
XM_011517553.2:c.8340T>G	XP_011515855.1:p.Phe2780Leu
XM_011517554.3:c.8340T>G	XP_011515856.1:p.Phe2780Leu
XM_011517555.2:c.8337T>G	XP_011515857.1:p.Phe2779Leu
XM_017013612.1:c.8340T>G	XP_016869101.1:p.Phe2780Leu
XM_017013613.1:c.8247T>G	XP_016869102.1:p.Phe2749Leu
NM_017780.4:c.8250T>G MANE Select	NP_060250.2:p.Phe2750Leu