Canonical Allele Identifier: CA12763106
Gene: CHCHD7 HGNC NCBI

Linked Data

dbSNP Id: rs6474051
gnomAD v2: 8-57125270-T-C
gnomAD v3: 8-56212711-T-C
gnomAD v4: 8-56212711-T-C
MyVariant Identifiers: chr8:g.57125270T>C (hg19) chr8:g.56212711T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56212711T>C , CM000670.2:g.56212711T>C GRCh38
NC_000008.10:g.57125270T>C , CM000670.1:g.57125270T>C GRCh37
NC_000008.9:g.57287824T>C NCBI36
NG_023310.1:g.3590A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355315.8:c.-17+874T>C MANE Select ENSP00000347469.3:n.-17+874T>C
ENST00000303759.3:c.-89-51T>C ENSP00000306425.3:n.-89-51T>C
ENST00000355315.7:c.-17+874T>C ENSP00000347469.3:n.-17+874T>C
ENST00000396723.9:c.-137-51T>C ENSP00000379949.5:n.-137-51T>C
ENST00000517636.5:c.-17+537T>C ENSP00000429230.1:n.-17+537T>C
ENST00000517933.5:c.-17+874T>C ENSP00000430350.1:n.-17+874T>C
ENST00000518169.1:n.53-51T>C
ENST00000518801.5:c.-108-51T>C ENSP00000428274.1:n.-108-51T>C
ENST00000521524.5:c.-108-51T>C ENSP00000430458.1:n.-108-51T>C
ENST00000521831.5:c.-17+874T>C ENSP00000429635.1:n.-17+874T>C
ENST00000521982.5:c.-137-51T>C ENSP00000430714.1:n.-137-51T>C
ENST00000522166.1:n.923T>C
ENST00000522366.5:n.49+874T>C
ENST00000523061.5:c.-17+874T>C ENSP00000430882.1:n.-17+874T>C
ENST00000523532.5:c.-137-51T>C ENSP00000430498.1:n.-137-51T>C
ENST00000523667.5:c.-137-51T>C ENSP00000429217.1:n.-137-51T>C
ENST00000523975.5:c.-108-51T>C ENSP00000428917.1:n.-108-51T>C
NM_001011667.1:c.-89-51T>C NP_001011667.1:n.-89-51T>C
NM_001011668.1:c.-89-51T>C NP_001011668.1:n.-89-51T>C
NM_001011669.1:c.-108-51T>C NP_001011669.1:n.-108-51T>C
NM_001011670.1:c.-17+874T>C NP_001011670.1:n.-17+874T>C
NM_001011671.1:c.-17+874T>C NP_001011671.1:n.-17+874T>C
NM_024300.3:c.-108-51T>C NP_077276.2:n.-108-51T>C
XR_428340.1:n.50-51T>C
NM_001011667.2:c.-89-51T>C NP_001011667.1:n.-89-51T>C
NM_001011668.2:c.-89-51T>C NP_001011668.1:n.-89-51T>C
NM_001011669.2:c.-108-51T>C NP_001011669.1:n.-108-51T>C
NM_001011670.2:c.-17+874T>C NP_001011670.1:n.-17+874T>C
NM_001011671.2:c.-17+874T>C NP_001011671.1:n.-17+874T>C
NM_001317858.1:c.-108-51T>C NP_001304787.1:n.-108-51T>C
NM_001317859.1:c.-17+874T>C NP_001304788.1:n.-17+874T>C
NM_024300.4:c.-108-51T>C NP_077276.2:n.-108-51T>C
NR_133934.1:n.201-51T>C
NR_133935.1:n.201-51T>C
NR_133936.1:n.201-51T>C
NR_133937.1:n.200+874T>C
NM_001011671.3:c.-17+874T>C MANE Select NP_001011671.1:n.-17+874T>C
NM_001011667.3:c.-89-51T>C NP_001011667.1:n.-89-51T>C
NM_001011668.3:c.-89-51T>C NP_001011668.1:n.-89-51T>C
NM_001011669.3:c.-108-51T>C NP_001011669.1:n.-108-51T>C
NM_001011670.3:c.-17+874T>C NP_001011670.1:n.-17+874T>C
NM_001317858.2:c.-108-51T>C NP_001304787.1:n.-108-51T>C
NM_001317859.2:c.-17+874T>C NP_001304788.1:n.-17+874T>C
NM_024300.5:c.-108-51T>C NP_077276.2:n.-108-51T>C
NR_133934.2:n.50-51T>C
NR_133935.2:n.50-51T>C
NR_133936.2:n.50-51T>C
NR_133937.2:n.49+874T>C
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