Canonical Allele Identifier: CA15550115

Gene: CHCHD7

Linked Data

• dbSNP Id: rs111729387
• gnomAD v2: 8-57125253-C-T
• gnomAD v3: 8-56212694-C-T
• gnomAD v4: 8-56212694-C-T
• MyVariant Identifiers: chr8:g.57125253C>T (hg19) ; chr8:g.56212694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56212694C>T , CM000670.2:g.56212694C>T	GRCh38
NC_000008.10:g.57125253C>T , CM000670.1:g.57125253C>T	GRCh37
NC_000008.9:g.57287807C>T	NCBI36
NG_023310.1:g.3607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355315.8:c.-17+857C>T MANE Select	ENSP00000347469.3:n.-17+857C>T
ENST00000303759.3:c.-89-68C>T	ENSP00000306425.3:n.-89-68C>T
ENST00000355315.7:c.-17+857C>T	ENSP00000347469.3:n.-17+857C>T
ENST00000396723.9:c.-137-68C>T	ENSP00000379949.5:n.-137-68C>T
ENST00000517636.5:c.-17+520C>T	ENSP00000429230.1:n.-17+520C>T
ENST00000517933.5:c.-17+857C>T	ENSP00000430350.1:n.-17+857C>T
ENST00000518169.1:n.53-68C>T
ENST00000518801.5:c.-108-68C>T	ENSP00000428274.1:n.-108-68C>T
ENST00000521524.5:c.-108-68C>T	ENSP00000430458.1:n.-108-68C>T
ENST00000521831.5:c.-17+857C>T	ENSP00000429635.1:n.-17+857C>T
ENST00000521982.5:c.-137-68C>T	ENSP00000430714.1:n.-137-68C>T
ENST00000522166.1:n.906C>T
ENST00000522366.5:n.49+857C>T
ENST00000523061.5:c.-17+857C>T	ENSP00000430882.1:n.-17+857C>T
ENST00000523532.5:c.-137-68C>T	ENSP00000430498.1:n.-137-68C>T
ENST00000523667.5:c.-137-68C>T	ENSP00000429217.1:n.-137-68C>T
ENST00000523975.5:c.-108-68C>T	ENSP00000428917.1:n.-108-68C>T
NM_001011667.1:c.-89-68C>T	NP_001011667.1:n.-89-68C>T
NM_001011668.1:c.-89-68C>T	NP_001011668.1:n.-89-68C>T
NM_001011669.1:c.-108-68C>T	NP_001011669.1:n.-108-68C>T
NM_001011670.1:c.-17+857C>T	NP_001011670.1:n.-17+857C>T
NM_001011671.1:c.-17+857C>T	NP_001011671.1:n.-17+857C>T
NM_024300.3:c.-108-68C>T	NP_077276.2:n.-108-68C>T
XR_428340.1:n.50-68C>T
NM_001011667.2:c.-89-68C>T	NP_001011667.1:n.-89-68C>T
NM_001011668.2:c.-89-68C>T	NP_001011668.1:n.-89-68C>T
NM_001011669.2:c.-108-68C>T	NP_001011669.1:n.-108-68C>T
NM_001011670.2:c.-17+857C>T	NP_001011670.1:n.-17+857C>T
NM_001011671.2:c.-17+857C>T	NP_001011671.1:n.-17+857C>T
NM_001317858.1:c.-108-68C>T	NP_001304787.1:n.-108-68C>T
NM_001317859.1:c.-17+857C>T	NP_001304788.1:n.-17+857C>T
NM_024300.4:c.-108-68C>T	NP_077276.2:n.-108-68C>T
NR_133934.1:n.201-68C>T
NR_133935.1:n.201-68C>T
NR_133936.1:n.201-68C>T
NR_133937.1:n.200+857C>T
NM_001011671.3:c.-17+857C>T MANE Select	NP_001011671.1:n.-17+857C>T
NM_001011667.3:c.-89-68C>T	NP_001011667.1:n.-89-68C>T
NM_001011668.3:c.-89-68C>T	NP_001011668.1:n.-89-68C>T
NM_001011669.3:c.-108-68C>T	NP_001011669.1:n.-108-68C>T
NM_001011670.3:c.-17+857C>T	NP_001011670.1:n.-17+857C>T
NM_001317858.2:c.-108-68C>T	NP_001304787.1:n.-108-68C>T
NM_001317859.2:c.-17+857C>T	NP_001304788.1:n.-17+857C>T
NM_024300.5:c.-108-68C>T	NP_077276.2:n.-108-68C>T
NR_133934.2:n.50-68C>T
NR_133935.2:n.50-68C>T
NR_133936.2:n.50-68C>T
NR_133937.2:n.49+857C>T