Canonical Allele Identifier: CA343366148

Gene: SDHC

Linked Data

• ClinVar Variation Id: 1391410
• ClinVar RCV Id: RCV001910987
• dbSNP Id: rs2102336404
• MyVariant Identifiers: chr1:g.161310445G>T (hg19) ; chr1:g.161340655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340655G>T , CM000663.2:g.161340655G>T	GRCh38
NC_000001.10:g.161310445G>T , CM000663.1:g.161310445G>T	GRCh37
NC_000001.9:g.159577069G>T	NCBI36
NG_012767.1:g.31280G>T , LRG_317:g.31280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*242G>T	ENSP00000482902.2:n.*242G>T
ENST00000367975.7:c.241G>T MANE Select	ENSP00000356953.3:p.Gly81Trp
ENST00000342751.8:c.241G>T	ENSP00000356952.3:p.Asp81Tyr
ENST00000367975.6:c.241G>T	ENSP00000356953.2:p.Gly81Trp
ENST00000392169.6:c.82G>T	ENSP00000376009.2:p.Gly28Trp
ENST00000432287.6:c.139G>T	ENSP00000390558.2:p.Gly47Trp
ENST00000470743.4:c.339G>T
ENST00000504963.5:c.*64G>T	ENSP00000423929.1:n.*64G>T
ENST00000513009.5:c.139G>T	ENSP00000423260.1:p.Asp47Tyr
NM_001035511.1:c.241G>T	NP_001030588.1:p.Asp81Tyr
NM_001035512.1:c.139G>T	NP_001030589.1:p.Gly47Trp
NM_001035513.1:c.82G>T	NP_001030590.1:p.Gly28Trp
NM_001278172.1:c.139G>T	NP_001265101.1:p.Asp47Tyr
NM_003001.3:c.241G>T , LRG_317t1:c.241G>T	NP_002992.1:p.Gly81Trp
NR_103459.1:n.298G>T
NM_001035511.2:c.241G>T	NP_001030588.1:p.Asp81Tyr
NM_001035512.2:c.139G>T	NP_001030589.1:p.Gly47Trp
NM_001035513.2:c.82G>T	NP_001030590.1:p.Gly28Trp
NM_001278172.2:c.139G>T	NP_001265101.1:p.Asp47Tyr
NM_003001.5:c.241G>T MANE Select	NP_002992.1:p.Gly81Trp
NR_103459.2:n.293G>T