Canonical Allele Identifier: CA047061

Gene: SDHC

Linked Data

• dbSNP Id: rs541278701
• ExAC: 1:161326610 T / G
• gnomAD v2: 1-161326610-T-G
• gnomAD v3: 1-161356820-T-G
• gnomAD v4: 1-161356820-T-G
• MyVariant Identifiers: chr1:g.161326610T>G (hg19) ; chr1:g.161356820T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356820T>G , CM000663.2:g.161356820T>G	GRCh38
NC_000001.10:g.161326610T>G , CM000663.1:g.161326610T>G	GRCh37
NC_000001.9:g.159593234T>G	NCBI36
NG_012767.1:g.47445T>G , LRG_317:g.47445T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*386T>G	ENSP00000482902.2:n.*386T>G
ENST00000367975.7:c.385T>G MANE Select	ENSP00000356953.3:p.Trp129Gly
ENST00000342751.8:c.242-5509T>G	ENSP00000356952.3:n.242-5509T>G
ENST00000367975.6:c.385T>G	ENSP00000356953.2:p.Trp129Gly
ENST00000392169.6:c.226T>G	ENSP00000376009.2:p.Trp76Gly
ENST00000432287.6:c.283T>G	ENSP00000390558.2:p.Trp95Gly
ENST00000470743.4:c.483T>G
ENST00000504963.5:c.*208T>G	ENSP00000423929.1:n.*208T>G
ENST00000513009.5:c.140-5509T>G	ENSP00000423260.1:n.140-5509T>G
NM_001035511.1:c.242-5509T>G	NP_001030588.1:n.242-5509T>G
NM_001035512.1:c.283T>G	NP_001030589.1:p.Trp95Gly
NM_001035513.1:c.226T>G	NP_001030590.1:p.Trp76Gly
NM_001278172.1:c.140-5509T>G	NP_001265101.1:n.140-5509T>G
NM_003001.3:c.385T>G , LRG_317t1:c.385T>G	NP_002992.1:p.Trp129Gly
NR_103459.1:n.442T>G
NM_001035511.2:c.242-5509T>G	NP_001030588.1:n.242-5509T>G
NM_001035512.2:c.283T>G	NP_001030589.1:p.Trp95Gly
NM_001035513.2:c.226T>G	NP_001030590.1:p.Trp76Gly
NM_001278172.2:c.140-5509T>G	NP_001265101.1:n.140-5509T>G
NM_003001.5:c.385T>G MANE Select	NP_002992.1:p.Trp129Gly
NR_103459.2:n.437T>G