Canonical Allele Identifier: CA4760861
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 529135
dbSNP Id: rs776711005
gnomAD v2: 8-61773527-C-T
gnomAD v3: 8-60860968-C-T
gnomAD v4: 8-60860968-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60860968C>T , CM000670.2:g.60860968C>T GRCh38
NC_000008.10:g.61773527C>T , CM000670.1:g.61773527C>T GRCh37
NC_000008.9:g.61936081C>T NCBI36
NG_007009.1:g.187189C>T , LRG_176:g.187189C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.849C>T
ENST00000695851.1:n.53C>T
ENST00000695853.1:c.*732C>T ENSP00000512218.1:n.*732C>T
ENST00000423902.7:c.7673C>T MANE Select ENSP00000392028.1:p.Pro2558Leu
ENST00000423902.6:c.7673C>T ENSP00000392028.1:p.Pro2558Leu
ENST00000524602.5:c.1717-1261C>T ENSP00000437061.1:n.1717-1261C>T
ENST00000531695.1:n.97C>T
ENST00000618450.1:n.65C>T
NM_001316690.1:c.1717-1261C>T NP_001303619.1:n.1717-1261C>T
NM_017780.3:c.7673C>T NP_060250.2:p.Pro2558Leu
XM_011517553.1:c.7763C>T XP_011515855.1:p.Pro2588Leu
XM_011517554.1:c.7763C>T XP_011515856.1:p.Pro2588Leu
XM_011517555.1:c.7760C>T XP_011515857.1:p.Pro2587Leu
XM_011517556.1:c.7699-1228C>T XP_011515858.1:n.7699-1228C>T
XM_011517557.1:c.5750C>T XP_011515859.1:p.Pro1917Leu
XM_011517558.1:c.5300C>T XP_011515860.1:p.Pro1767Leu
XM_011517559.1:c.4508C>T XP_011515861.1:p.Pro1503Leu
XM_011517553.2:c.7763C>T XP_011515855.1:p.Pro2588Leu
XM_011517554.3:c.7763C>T XP_011515856.1:p.Pro2588Leu
XM_011517555.2:c.7760C>T XP_011515857.1:p.Pro2587Leu
XM_017013612.1:c.7763C>T XP_016869101.1:p.Pro2588Leu
XM_017013613.1:c.7670C>T XP_016869102.1:p.Pro2557Leu
NM_017780.4:c.7673C>T MANE Select NP_060250.2:p.Pro2558Leu