Canonical Allele Identifier: CA4760963
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1400843
ClinVar RCV Id: RCV001896779
dbSNP Id: rs779381935
gnomAD v2: 8-61777687-C-A
gnomAD v3: 8-60865128-C-A
gnomAD v4: 8-60865128-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865128C>A , CM000670.2:g.60865128C>A GRCh38
NC_000008.10:g.61777687C>A , CM000670.1:g.61777687C>A GRCh37
NC_000008.9:g.61940241C>A NCBI36
NG_007009.1:g.191349C>A , LRG_176:g.191349C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1365C>A
ENST00000695852.1:n.296C>A
ENST00000695853.1:c.*1248C>A ENSP00000512218.1:n.*1248C>A
ENST00000423902.7:c.8189C>A MANE Select ENSP00000392028.1:p.Ala2730Glu
ENST00000423902.6:c.8189C>A ENSP00000392028.1:p.Ala2730Glu
ENST00000524602.5:c.2042C>A ENSP00000437061.1:p.Ala681Glu
ENST00000528280.1:n.235C>A
ENST00000532149.1:n.611C>A
NM_001316690.1:c.2042C>A NP_001303619.1:p.Ala681Glu
NM_017780.3:c.8189C>A NP_060250.2:p.Ala2730Glu
XM_011517553.1:c.8279C>A XP_011515855.1:p.Ala2760Glu
XM_011517554.1:c.8279C>A XP_011515856.1:p.Ala2760Glu
XM_011517555.1:c.8276C>A XP_011515857.1:p.Ala2759Glu
XM_011517556.1:c.8057C>A XP_011515858.1:p.Ala2686Glu
XM_011517557.1:c.6266C>A XP_011515859.1:p.Ala2089Glu
XM_011517558.1:c.5816C>A XP_011515860.1:p.Ala1939Glu
XM_011517559.1:c.5024C>A XP_011515861.1:p.Ala1675Glu
XM_011517553.2:c.8279C>A XP_011515855.1:p.Ala2760Glu
XM_011517554.3:c.8279C>A XP_011515856.1:p.Ala2760Glu
XM_011517555.2:c.8276C>A XP_011515857.1:p.Ala2759Glu
XM_017013612.1:c.8279C>A XP_016869101.1:p.Ala2760Glu
XM_017013613.1:c.8186C>A XP_016869102.1:p.Ala2729Glu
NM_017780.4:c.8189C>A MANE Select NP_060250.2:p.Ala2730Glu