Canonical Allele Identifier: CA343361368

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1779744
• ClinVar RCV Id: RCV002401786
• gnomAD v4: 1-161328494-A-C
• MyVariant Identifiers: chr1:g.161298284A>C (hg19) ; chr1:g.161328494A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328494A>C , CM000663.2:g.161328494A>C	GRCh38
NC_000001.10:g.161298284A>C , CM000663.1:g.161298284A>C	GRCh37
NC_000001.9:g.159564908A>C	NCBI36
NG_012767.1:g.19119A>C , LRG_317:g.19119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*177A>C	ENSP00000482902.2:n.*177A>C
ENST00000367975.7:c.176A>C MANE Select	ENSP00000356953.3:p.Tyr59Ser
ENST00000342751.8:c.176A>C	ENSP00000356952.3:p.Tyr59Ser
ENST00000367975.6:c.176A>C	ENSP00000356953.2:p.Tyr59Ser
ENST00000392169.6:c.21-12100A>C	ENSP00000376009.2:n.21-12100A>C
ENST00000432287.6:c.77+4824A>C	ENSP00000390558.2:n.77+4824A>C
ENST00000470743.4:c.274A>C
ENST00000504963.5:c.176A>C	ENSP00000423929.1:p.Tyr59Ser
ENST00000513009.5:c.77+4824A>C	ENSP00000423260.1:n.77+4824A>C
ENST00000515731.1:n.650A>C
NM_001035511.1:c.176A>C	NP_001030588.1:p.Tyr59Ser
NM_001035512.1:c.77+4824A>C	NP_001030589.1:n.77+4824A>C
NM_001035513.1:c.21-12100A>C	NP_001030590.1:n.21-12100A>C
NM_001278172.1:c.77+4824A>C	NP_001265101.1:n.77+4824A>C
NM_003001.3:c.176A>C , LRG_317t1:c.176A>C	NP_002992.1:p.Tyr59Ser
NR_103459.1:n.206A>C
NM_001035511.2:c.176A>C	NP_001030588.1:p.Tyr59Ser
NM_001035512.2:c.77+4824A>C	NP_001030589.1:n.77+4824A>C
NM_001035513.2:c.21-12100A>C	NP_001030590.1:n.21-12100A>C
NM_001278172.2:c.77+4824A>C	NP_001265101.1:n.77+4824A>C
NM_003001.5:c.176A>C MANE Select	NP_002992.1:p.Tyr59Ser
NR_103459.2:n.201A>C