Canonical Allele Identifier: CA371308140

Gene: CHD7

Linked Data

• dbSNP Id: rs1806184554
• gnomAD v3: 8-60865233-A-G
• gnomAD v4: 8-60865233-A-G
• MyVariant Identifiers: chr8:g.61777792A>G (hg19) ; chr8:g.60865233A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865233A>G , CM000670.2:g.60865233A>G	GRCh38
NC_000008.10:g.61777792A>G , CM000670.1:g.61777792A>G	GRCh37
NC_000008.9:g.61940346A>G	NCBI36
NG_007009.1:g.191454A>G , LRG_176:g.191454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1470A>G
ENST00000695852.1:n.401A>G
ENST00000695853.1:c.*1353A>G	ENSP00000512218.1:n.*1353A>G
ENST00000423902.7:c.8294A>G MANE Select	ENSP00000392028.1:p.Gln2765Arg
ENST00000423902.6:c.8294A>G	ENSP00000392028.1:p.Gln2765Arg
ENST00000524602.5:c.2147A>G	ENSP00000437061.1:p.Gln716Arg
ENST00000528280.1:n.340A>G
NM_001316690.1:c.2147A>G	NP_001303619.1:p.Gln716Arg
NM_017780.3:c.8294A>G	NP_060250.2:p.Gln2765Arg
XM_011517553.1:c.8384A>G	XP_011515855.1:p.Gln2795Arg
XM_011517554.1:c.8384A>G	XP_011515856.1:p.Gln2795Arg
XM_011517555.1:c.8381A>G	XP_011515857.1:p.Gln2794Arg
XM_011517556.1:c.8162A>G	XP_011515858.1:p.Gln2721Arg
XM_011517557.1:c.6371A>G	XP_011515859.1:p.Gln2124Arg
XM_011517558.1:c.5921A>G	XP_011515860.1:p.Gln1974Arg
XM_011517559.1:c.5129A>G	XP_011515861.1:p.Gln1710Arg
XM_011517553.2:c.8384A>G	XP_011515855.1:p.Gln2795Arg
XM_011517554.3:c.8384A>G	XP_011515856.1:p.Gln2795Arg
XM_011517555.2:c.8381A>G	XP_011515857.1:p.Gln2794Arg
XM_017013612.1:c.8384A>G	XP_016869101.1:p.Gln2795Arg
XM_017013613.1:c.8291A>G	XP_016869102.1:p.Gln2764Arg
NM_017780.4:c.8294A>G MANE Select	NP_060250.2:p.Gln2765Arg