Canonical Allele Identifier: CA371304199
Gene: CHD7 HGNC NCBI

Linked Data

gnomAD v4: 8-60860925-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60860925G>T , CM000670.2:g.60860925G>T GRCh38
NC_000008.10:g.61773484G>T , CM000670.1:g.61773484G>T GRCh37
NC_000008.9:g.61936038G>T NCBI36
NG_007009.1:g.187146G>T , LRG_176:g.187146G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.806G>T
ENST00000695851.1:n.10G>T
ENST00000695853.1:c.*689G>T ENSP00000512218.1:n.*689G>T
ENST00000423902.7:c.7630G>T MANE Select ENSP00000392028.1:p.Ala2544Ser
ENST00000423902.6:c.7630G>T ENSP00000392028.1:p.Ala2544Ser
ENST00000524602.5:c.1717-1304G>T ENSP00000437061.1:n.1717-1304G>T
ENST00000531695.1:n.54G>T
ENST00000618450.1:n.22G>T
NM_001316690.1:c.1717-1304G>T NP_001303619.1:n.1717-1304G>T
NM_017780.3:c.7630G>T NP_060250.2:p.Ala2544Ser
XM_011517553.1:c.7720G>T XP_011515855.1:p.Ala2574Ser
XM_011517554.1:c.7720G>T XP_011515856.1:p.Ala2574Ser
XM_011517555.1:c.7717G>T XP_011515857.1:p.Ala2573Ser
XM_011517556.1:c.7699-1271G>T XP_011515858.1:n.7699-1271G>T
XM_011517557.1:c.5707G>T XP_011515859.1:p.Ala1903Ser
XM_011517558.1:c.5257G>T XP_011515860.1:p.Ala1753Ser
XM_011517559.1:c.4465G>T XP_011515861.1:p.Ala1489Ser
XM_011517553.2:c.7720G>T XP_011515855.1:p.Ala2574Ser
XM_011517554.3:c.7720G>T XP_011515856.1:p.Ala2574Ser
XM_011517555.2:c.7717G>T XP_011515857.1:p.Ala2573Ser
XM_017013612.1:c.7720G>T XP_016869101.1:p.Ala2574Ser
XM_017013613.1:c.7627G>T XP_016869102.1:p.Ala2543Ser
NM_017780.4:c.7630G>T MANE Select NP_060250.2:p.Ala2544Ser