Canonical Allele Identifier: CA31686019
Gene: SDHC HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161328432G>C , CM000663.2:g.161328432G>C GRCh38
NC_000001.10:g.161298222G>C , CM000663.1:g.161298222G>C GRCh37
NC_000001.9:g.159564846G>C NCBI36
NG_012767.1:g.19057G>C , LRG_317:g.19057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470743.5:c.*115G>C ENSP00000482902.2:n.*115G>C
ENST00000367975.7:c.114G>C MANE Select ENSP00000356953.3:p.Met38Ile
ENST00000342751.8:c.114G>C ENSP00000356952.3:p.Met38Ile
ENST00000367975.6:c.114G>C ENSP00000356953.2:p.Met38Ile
ENST00000392169.6:c.21-12162G>C ENSP00000376009.2:n.21-12162G>C
ENST00000432287.6:c.77+4762G>C ENSP00000390558.2:n.77+4762G>C
ENST00000470743.4:c.212G>C
ENST00000504963.5:c.114G>C ENSP00000423929.1:p.Met38Ile
ENST00000513009.5:c.77+4762G>C ENSP00000423260.1:n.77+4762G>C
ENST00000515731.1:n.588G>C
NM_001035511.1:c.114G>C NP_001030588.1:p.Met38Ile
NM_001035512.1:c.77+4762G>C NP_001030589.1:n.77+4762G>C
NM_001035513.1:c.21-12162G>C NP_001030590.1:n.21-12162G>C
NM_001278172.1:c.77+4762G>C NP_001265101.1:n.77+4762G>C
NM_003001.3:c.114G>C , LRG_317t1:c.114G>C NP_002992.1:p.Met38Ile
NR_103459.1:n.144G>C
NM_001035511.2:c.114G>C NP_001030588.1:p.Met38Ile
NM_001035512.2:c.77+4762G>C NP_001030589.1:n.77+4762G>C
NM_001035513.2:c.21-12162G>C NP_001030590.1:n.21-12162G>C
NM_001278172.2:c.77+4762G>C NP_001265101.1:n.77+4762G>C
NM_003001.5:c.114G>C MANE Select NP_002992.1:p.Met38Ile
NR_103459.2:n.139G>C