Canonical Allele Identifier: CA4760961
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509946
ClinVar RCV Id: RCV002011399
dbSNP Id: rs757707495
gnomAD v2: 8-61777686-G-A
gnomAD v3: 8-60865127-G-A
gnomAD v4: 8-60865127-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865127G>A , CM000670.2:g.60865127G>A GRCh38
NC_000008.10:g.61777686G>A , CM000670.1:g.61777686G>A GRCh37
NC_000008.9:g.61940240G>A NCBI36
NG_007009.1:g.191348G>A , LRG_176:g.191348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1364G>A
ENST00000695852.1:n.295G>A
ENST00000695853.1:c.*1247G>A ENSP00000512218.1:n.*1247G>A
ENST00000423902.7:c.8188G>A MANE Select ENSP00000392028.1:p.Ala2730Thr
ENST00000423902.6:c.8188G>A ENSP00000392028.1:p.Ala2730Thr
ENST00000524602.5:c.2041G>A ENSP00000437061.1:p.Ala681Thr
ENST00000528280.1:n.234G>A
ENST00000532149.1:n.610G>A
NM_001316690.1:c.2041G>A NP_001303619.1:p.Ala681Thr
NM_017780.3:c.8188G>A NP_060250.2:p.Ala2730Thr
XM_011517553.1:c.8278G>A XP_011515855.1:p.Ala2760Thr
XM_011517554.1:c.8278G>A XP_011515856.1:p.Ala2760Thr
XM_011517555.1:c.8275G>A XP_011515857.1:p.Ala2759Thr
XM_011517556.1:c.8056G>A XP_011515858.1:p.Ala2686Thr
XM_011517557.1:c.6265G>A XP_011515859.1:p.Ala2089Thr
XM_011517558.1:c.5815G>A XP_011515860.1:p.Ala1939Thr
XM_011517559.1:c.5023G>A XP_011515861.1:p.Ala1675Thr
XM_011517553.2:c.8278G>A XP_011515855.1:p.Ala2760Thr
XM_011517554.3:c.8278G>A XP_011515856.1:p.Ala2760Thr
XM_011517555.2:c.8275G>A XP_011515857.1:p.Ala2759Thr
XM_017013612.1:c.8278G>A XP_016869101.1:p.Ala2760Thr
XM_017013613.1:c.8185G>A XP_016869102.1:p.Ala2729Thr
NM_017780.4:c.8188G>A MANE Select NP_060250.2:p.Ala2730Thr