Canonical Allele Identifier: CA1788135001
Gene: CHD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60849206T= , CM000670.2:g.60849206T= GRCh38
NC_000008.10:g.61761765T= , CM000670.1:g.61761765T= GRCh37
NC_000008.9:g.61924319T= NCBI36
NG_007009.1:g.175427T= , LRG_176:g.175427T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.5404+52T= ENSP00000512218.1:n.5404+52T=
ENST00000423902.7:c.5404+52T= MANE Select ENSP00000392028.1:n.5404+52T=
ENST00000423902.6:c.5404+52T= ENSP00000392028.1:n.5404+52T=
ENST00000524602.5:c.1717-13023T= ENSP00000437061.1:n.1717-13023T=
NM_001316690.1:c.1717-13023T= NP_001303619.1:n.1717-13023T=
NM_017780.3:c.5404+52T= NP_060250.2:n.5404+52T=
XM_011517553.1:c.5494+52T= XP_011515855.1:n.5494+52T=
XM_011517554.1:c.5494+52T= XP_011515856.1:n.5494+52T=
XM_011517555.1:c.5494+52T= XP_011515857.1:n.5494+52T=
XM_011517556.1:c.5494+52T= XP_011515858.1:n.5494+52T=
XM_011517557.1:c.3481+52T= XP_011515859.1:n.3481+52T=
XM_011517558.1:c.3031+52T= XP_011515860.1:n.3031+52T=
XM_011517559.1:c.2239+52T= XP_011515861.1:n.2239+52T=
XM_011517553.2:c.5494+52T= XP_011515855.1:n.5494+52T=
XM_011517554.3:c.5494+52T= XP_011515856.1:n.5494+52T=
XM_011517555.2:c.5494+52T= XP_011515857.1:n.5494+52T=
XM_017013612.1:c.5494+52T= XP_016869101.1:n.5494+52T=
XM_017013613.1:c.5404+52T= XP_016869102.1:n.5404+52T=
NM_017780.4:c.5404+52T= MANE Select NP_060250.2:n.5404+52T=