Canonical Allele Identifier: CA200363

Gene: SDHAF1

Linked Data

• ClinVar Variation Id: 193150
• ClinVar RCV Id: RCV000173196 ; RCV001512815 ; RCV001807109
• dbSNP Id: rs7249826
• ExAC: 19:36486445 G / C
• gnomAD v2: 19-36486445-G-C
• gnomAD v3: 19-35995543-G-C
• gnomAD v4: 19-35995543-G-C
• MyVariant Identifiers: chr19:g.36486445G>C (hg19) ; chr19:g.35995543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35995543G>C , CM000681.2:g.35995543G>C	GRCh38
NC_000019.9:g.36486445G>C , CM000681.1:g.36486445G>C	GRCh37
NC_000019.8:g.41178285G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378887.4:c.269G>C MANE Select	ENSP00000368165.2:p.Cys90Ser
ENST00000378887.3:c.269G>C	ENSP00000368165.2:p.Cys90Ser
NM_001042631.3:c.269G>C MANE Select	NP_001036096.2:p.Cys90Ser