Canonical Allele Identifier: CA252062
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2032
ClinVar RCV Id: RCV000002110
dbSNP Id: rs121434343

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60853047G>A , CM000670.2:g.60853047G>A GRCh38
NC_000008.10:g.61765606G>A , CM000670.1:g.61765606G>A GRCh37
NC_000008.9:g.61928160G>A NCBI36
NG_007009.1:g.179268G>A , LRG_176:g.179268G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.6322G>A ENSP00000512218.1:p.Gly2108Arg
ENST00000423902.7:c.6322G>A MANE Select ENSP00000392028.1:p.Gly2108Arg
ENST00000423902.6:c.6322G>A ENSP00000392028.1:p.Gly2108Arg
ENST00000524602.5:c.1717-9182G>A ENSP00000437061.1:n.1717-9182G>A
NM_001316690.1:c.1717-9182G>A NP_001303619.1:n.1717-9182G>A
NM_017780.3:c.6322G>A NP_060250.2:p.Gly2108Arg
XM_011517553.1:c.6412G>A XP_011515855.1:p.Gly2138Arg
XM_011517554.1:c.6412G>A XP_011515856.1:p.Gly2138Arg
XM_011517555.1:c.6412G>A XP_011515857.1:p.Gly2138Arg
XM_011517556.1:c.6412G>A XP_011515858.1:p.Gly2138Arg
XM_011517557.1:c.4399G>A XP_011515859.1:p.Gly1467Arg
XM_011517558.1:c.3949G>A XP_011515860.1:p.Gly1317Arg
XM_011517559.1:c.3157G>A XP_011515861.1:p.Gly1053Arg
XM_011517553.2:c.6412G>A XP_011515855.1:p.Gly2138Arg
XM_011517554.3:c.6412G>A XP_011515856.1:p.Gly2138Arg
XM_011517555.2:c.6412G>A XP_011515857.1:p.Gly2138Arg
XM_017013612.1:c.6412G>A XP_016869101.1:p.Gly2138Arg
XM_017013613.1:c.6322G>A XP_016869102.1:p.Gly2108Arg
NM_017780.4:c.6322G>A MANE Select NP_060250.2:p.Gly2108Arg