Canonical Allele Identifier: CA350492

Gene: SDHC

Linked Data

• ClinVar Variation Id: 220994
• ClinVar RCV Id: RCV000206464 ; RCV001025908
• dbSNP Id: rs775353334
• gnomAD v3: 1-161314411-T-C
• gnomAD v4: 1-161314411-T-C
• MyVariant Identifiers: chr1:g.161284201T>C (hg19) ; chr1:g.161314411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161314411T>C , CM000663.2:g.161314411T>C	GRCh38
NC_000001.10:g.161284201T>C , CM000663.1:g.161284201T>C	GRCh37
NC_000001.9:g.159550825T>C	NCBI36
NG_008055.1:g.562A>G , LRG_256:g.562A>G
NG_012767.1:g.5036T>C , LRG_317:g.5036T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.6T>C	ENSP00000482902.2:p.Ala2=
ENST00000367975.7:c.6T>C MANE Select	ENSP00000356953.3:p.Ala2=
ENST00000342751.8:c.6T>C	ENSP00000356952.3:p.Ala2=
ENST00000367975.6:c.6T>C	ENSP00000356953.2:p.Ala2=
ENST00000392169.6:c.6T>C	ENSP00000376009.2:p.Ala2=
ENST00000432287.6:c.6T>C	ENSP00000390558.2:p.Ala2=
ENST00000504963.5:c.6T>C	ENSP00000423929.1:p.Ala2=
ENST00000513009.5:c.6T>C	ENSP00000423260.1:p.Ala2=
ENST00000515731.1:n.31T>C
NM_001035511.1:c.6T>C	NP_001030588.1:p.Ala2=
NM_001035512.1:c.6T>C	NP_001030589.1:p.Ala2=
NM_001035513.1:c.6T>C	NP_001030590.1:p.Ala2=
NM_001278172.1:c.6T>C	NP_001265101.1:p.Ala2=
NM_003001.3:c.6T>C , LRG_317t1:c.6T>C	NP_002992.1:p.Ala2=
NR_103459.1:n.36T>C
NM_001035511.2:c.6T>C	NP_001030588.1:p.Ala2=
NM_001035512.2:c.6T>C	NP_001030589.1:p.Ala2=
NM_001035513.2:c.6T>C	NP_001030590.1:p.Ala2=
NM_001278172.2:c.6T>C	NP_001265101.1:p.Ala2=
NM_003001.5:c.6T>C MANE Select	NP_002992.1:p.Ala2=
NR_103459.2:n.31T>C