Canonical Allele Identifier: CA421408565
Gene: SDHC HGNC NCBI

Linked Data

ClinVar Variation Id: 819707
ClinVar RCV Id: RCV001012492
dbSNP Id: rs374450282
MyVariant Identifiers: chr1:g.161298270C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161328480C>T , CM000663.2:g.161328480C>T GRCh38
NC_000001.10:g.161298270C>T , CM000663.1:g.161298270C>T GRCh37
NC_000001.9:g.159564894C>T NCBI36
NG_012767.1:g.19105C>T , LRG_317:g.19105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470743.5:c.*163C>T ENSP00000482902.2:n.*163C>T
ENST00000367975.7:c.162C>T MANE Select ENSP00000356953.3:p.Pro54=
ENST00000342751.8:c.162C>T ENSP00000356952.3:p.Pro54=
ENST00000367975.6:c.162C>T ENSP00000356953.2:p.Pro54=
ENST00000392169.6:c.21-12114C>T ENSP00000376009.2:n.21-12114C>T
ENST00000432287.6:c.77+4810C>T ENSP00000390558.2:n.77+4810C>T
ENST00000470743.4:c.260C>T
ENST00000504963.5:c.162C>T ENSP00000423929.1:p.Pro54=
ENST00000513009.5:c.77+4810C>T ENSP00000423260.1:n.77+4810C>T
ENST00000515731.1:n.636C>T
NM_001035511.1:c.162C>T NP_001030588.1:p.Pro54=
NM_001035512.1:c.77+4810C>T NP_001030589.1:n.77+4810C>T
NM_001035513.1:c.21-12114C>T NP_001030590.1:n.21-12114C>T
NM_001278172.1:c.77+4810C>T NP_001265101.1:n.77+4810C>T
NM_003001.3:c.162C>T , LRG_317t1:c.162C>T NP_002992.1:p.Pro54=
NR_103459.1:n.192C>T
NM_001035511.2:c.162C>T NP_001030588.1:p.Pro54=
NM_001035512.2:c.77+4810C>T NP_001030589.1:n.77+4810C>T
NM_001035513.2:c.21-12114C>T NP_001030590.1:n.21-12114C>T
NM_001278172.2:c.77+4810C>T NP_001265101.1:n.77+4810C>T
NM_003001.5:c.162C>T MANE Select NP_002992.1:p.Pro54=
NR_103459.2:n.187C>T