Canonical Allele Identifier: CA4760343
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1696913
dbSNP Id: rs753913368
gnomAD v2: 8-61761645-C-T
gnomAD v3: 8-60849086-C-T
gnomAD v4: 8-60849086-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60849086C>T , CM000670.2:g.60849086C>T GRCh38
NC_000008.10:g.61761645C>T , CM000670.1:g.61761645C>T GRCh37
NC_000008.9:g.61924199C>T NCBI36
NG_007009.1:g.175307C>T , LRG_176:g.175307C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.5336C>T ENSP00000512218.1:p.Ala1779Val
ENST00000423902.7:c.5336C>T MANE Select ENSP00000392028.1:p.Ala1779Val
ENST00000423902.6:c.5336C>T ENSP00000392028.1:p.Ala1779Val
ENST00000524602.5:c.1717-13143C>T ENSP00000437061.1:n.1717-13143C>T
NM_001316690.1:c.1717-13143C>T NP_001303619.1:n.1717-13143C>T
NM_017780.3:c.5336C>T NP_060250.2:p.Ala1779Val
XM_011517553.1:c.5426C>T XP_011515855.1:p.Ala1809Val
XM_011517554.1:c.5426C>T XP_011515856.1:p.Ala1809Val
XM_011517555.1:c.5426C>T XP_011515857.1:p.Ala1809Val
XM_011517556.1:c.5426C>T XP_011515858.1:p.Ala1809Val
XM_011517557.1:c.3413C>T XP_011515859.1:p.Ala1138Val
XM_011517558.1:c.2963C>T XP_011515860.1:p.Ala988Val
XM_011517559.1:c.2171C>T XP_011515861.1:p.Ala724Val
XM_011517553.2:c.5426C>T XP_011515855.1:p.Ala1809Val
XM_011517554.3:c.5426C>T XP_011515856.1:p.Ala1809Val
XM_011517555.2:c.5426C>T XP_011515857.1:p.Ala1809Val
XM_017013612.1:c.5426C>T XP_016869101.1:p.Ala1809Val
XM_017013613.1:c.5336C>T XP_016869102.1:p.Ala1779Val
NM_017780.4:c.5336C>T MANE Select NP_060250.2:p.Ala1779Val