Canonical Allele Identifier: CA4760868
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs761034050
gnomAD v2: 8-61773562-C-T
gnomAD v4: 8-60861003-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60861003C>T , CM000670.2:g.60861003C>T GRCh38
NC_000008.10:g.61773562C>T , CM000670.1:g.61773562C>T GRCh37
NC_000008.9:g.61936116C>T NCBI36
NG_007009.1:g.187224C>T , LRG_176:g.187224C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.884C>T
ENST00000695851.1:n.88C>T
ENST00000695853.1:c.*767C>T ENSP00000512218.1:n.*767C>T
ENST00000423902.7:c.7708C>T MANE Select ENSP00000392028.1:p.Pro2570Ser
ENST00000423902.6:c.7708C>T ENSP00000392028.1:p.Pro2570Ser
ENST00000524602.5:c.1717-1226C>T ENSP00000437061.1:n.1717-1226C>T
ENST00000531695.1:n.132C>T
ENST00000618450.1:n.100C>T
NM_001316690.1:c.1717-1226C>T NP_001303619.1:n.1717-1226C>T
NM_017780.3:c.7708C>T NP_060250.2:p.Pro2570Ser
XM_011517553.1:c.7798C>T XP_011515855.1:p.Pro2600Ser
XM_011517554.1:c.7798C>T XP_011515856.1:p.Pro2600Ser
XM_011517555.1:c.7795C>T XP_011515857.1:p.Pro2599Ser
XM_011517556.1:c.7699-1193C>T XP_011515858.1:n.7699-1193C>T
XM_011517557.1:c.5785C>T XP_011515859.1:p.Pro1929Ser
XM_011517558.1:c.5335C>T XP_011515860.1:p.Pro1779Ser
XM_011517559.1:c.4543C>T XP_011515861.1:p.Pro1515Ser
XM_011517553.2:c.7798C>T XP_011515855.1:p.Pro2600Ser
XM_011517554.3:c.7798C>T XP_011515856.1:p.Pro2600Ser
XM_011517555.2:c.7795C>T XP_011515857.1:p.Pro2599Ser
XM_017013612.1:c.7798C>T XP_016869101.1:p.Pro2600Ser
XM_017013613.1:c.7705C>T XP_016869102.1:p.Pro2569Ser
NM_017780.4:c.7708C>T MANE Select NP_060250.2:p.Pro2570Ser