Canonical Allele Identifier: CA4760954
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2494843
ClinVar RCV Id: RCV003216242
dbSNP Id: rs750380325
gnomAD v2: 8-61777638-G-A
gnomAD v4: 8-60865079-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865079G>A , CM000670.2:g.60865079G>A GRCh38
NC_000008.10:g.61777638G>A , CM000670.1:g.61777638G>A GRCh37
NC_000008.9:g.61940192G>A NCBI36
NG_007009.1:g.191300G>A , LRG_176:g.191300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1316G>A
ENST00000695852.1:n.247G>A
ENST00000695853.1:c.*1199G>A ENSP00000512218.1:n.*1199G>A
ENST00000423902.7:c.8140G>A MANE Select ENSP00000392028.1:p.Ala2714Thr
ENST00000423902.6:c.8140G>A ENSP00000392028.1:p.Ala2714Thr
ENST00000524602.5:c.1993G>A ENSP00000437061.1:p.Ala665Thr
ENST00000528280.1:n.186G>A
ENST00000532149.1:n.562G>A
ENST00000618450.1:n.4176G>A
NM_001316690.1:c.1993G>A NP_001303619.1:p.Ala665Thr
NM_017780.3:c.8140G>A NP_060250.2:p.Ala2714Thr
XM_011517553.1:c.8230G>A XP_011515855.1:p.Ala2744Thr
XM_011517554.1:c.8230G>A XP_011515856.1:p.Ala2744Thr
XM_011517555.1:c.8227G>A XP_011515857.1:p.Ala2743Thr
XM_011517556.1:c.8008G>A XP_011515858.1:p.Ala2670Thr
XM_011517557.1:c.6217G>A XP_011515859.1:p.Ala2073Thr
XM_011517558.1:c.5767G>A XP_011515860.1:p.Ala1923Thr
XM_011517559.1:c.4975G>A XP_011515861.1:p.Ala1659Thr
XM_011517553.2:c.8230G>A XP_011515855.1:p.Ala2744Thr
XM_011517554.3:c.8230G>A XP_011515856.1:p.Ala2744Thr
XM_011517555.2:c.8227G>A XP_011515857.1:p.Ala2743Thr
XM_017013612.1:c.8230G>A XP_016869101.1:p.Ala2744Thr
XM_017013613.1:c.8137G>A XP_016869102.1:p.Ala2713Thr
NM_017780.4:c.8140G>A MANE Select NP_060250.2:p.Ala2714Thr