Canonical Allele Identifier: CA1785929812
Gene: CHCHD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56212779C= , CM000670.2:g.56212779C= GRCh38
NC_000008.10:g.57125338C= , CM000670.1:g.57125338C= GRCh37
NC_000008.9:g.57287892C= NCBI36
NG_023310.1:g.3522G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355315.8:c.-17+942C= MANE Select ENSP00000347469.3:n.-17+942C=
ENST00000303759.3:c.-72C= ENSP00000306425.3:n.-72C=
ENST00000355315.7:c.-17+942C= ENSP00000347469.3:n.-17+942C=
ENST00000396723.9:c.-120C= ENSP00000379949.5:n.-120C=
ENST00000517636.5:c.-17+605C= ENSP00000429230.1:n.-17+605C=
ENST00000517933.5:c.-17+942C= ENSP00000430350.1:n.-17+942C=
ENST00000518169.1:n.70C=
ENST00000518801.5:c.-91C= ENSP00000428274.1:n.-91C=
ENST00000521524.5:c.-91C= ENSP00000430458.1:n.-91C=
ENST00000521831.5:c.-17+942C= ENSP00000429635.1:n.-17+942C=
ENST00000521982.5:c.-120C= ENSP00000430714.1:n.-120C=
ENST00000522166.1:n.991C=
ENST00000522366.5:n.49+942C=
ENST00000523061.5:c.-17+942C= ENSP00000430882.1:n.-17+942C=
ENST00000523532.5:c.-120C= ENSP00000430498.1:n.-120C=
ENST00000523667.5:c.-120C= ENSP00000429217.1:n.-120C=
ENST00000523975.5:c.-91C= ENSP00000428917.1:n.-91C=
NM_001011667.1:c.-72C= NP_001011667.1:n.-72C=
NM_001011668.1:c.-72C= NP_001011668.1:n.-72C=
NM_001011669.1:c.-91C= NP_001011669.1:n.-91C=
NM_001011670.1:c.-17+942C= NP_001011670.1:n.-17+942C=
NM_001011671.1:c.-17+942C= NP_001011671.1:n.-17+942C=
NM_024300.3:c.-91C= NP_077276.2:n.-91C=
XR_428340.1:n.67C=
NM_001011667.2:c.-72C= NP_001011667.1:n.-72C=
NM_001011668.2:c.-72C= NP_001011668.1:n.-72C=
NM_001011669.2:c.-91C= NP_001011669.1:n.-91C=
NM_001011670.2:c.-17+942C= NP_001011670.1:n.-17+942C=
NM_001011671.2:c.-17+942C= NP_001011671.1:n.-17+942C=
NM_001317858.1:c.-91C= NP_001304787.1:n.-91C=
NM_001317859.1:c.-17+942C= NP_001304788.1:n.-17+942C=
NM_024300.4:c.-91C= NP_077276.2:n.-91C=
NR_133934.1:n.218C=
NR_133935.1:n.218C=
NR_133936.1:n.218C=
NR_133937.1:n.200+942C=
NM_001011671.3:c.-17+942C= MANE Select NP_001011671.1:n.-17+942C=
NM_001011667.3:c.-72C= NP_001011667.1:n.-72C=
NM_001011668.3:c.-72C= NP_001011668.1:n.-72C=
NM_001011669.3:c.-91C= NP_001011669.1:n.-91C=
NM_001011670.3:c.-17+942C= NP_001011670.1:n.-17+942C=
NM_001317858.2:c.-91C= NP_001304787.1:n.-91C=
NM_001317859.2:c.-17+942C= NP_001304788.1:n.-17+942C=
NM_024300.5:c.-91C= NP_077276.2:n.-91C=
NR_133934.2:n.67C=
NR_133935.2:n.67C=
NR_133936.2:n.67C=
NR_133937.2:n.49+942C=