Canonical Allele Identifier: CA302686

Gene: SDHAF1

Linked Data

• ClinVar Variation Id: 139089
• ClinVar RCV Id: RCV000173197 ; RCV000403258 ; RCV000676630
• dbSNP Id: rs76336581
• ExAC: 19:36486509 C / G
• gnomAD v2: 19-36486509-C-G
• gnomAD v3: 19-35995607-C-G
• gnomAD v4: 19-35995607-C-G
• MyVariant Identifiers: chr19:g.36486509C>G (hg19) ; chr19:g.35995607C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35995607C>G , CM000681.2:g.35995607C>G	GRCh38
NC_000019.9:g.36486509C>G , CM000681.1:g.36486509C>G	GRCh37
NC_000019.8:g.41178349C>G	NCBI36
NG_016869.1:g.5420C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378887.4:c.333C>G MANE Select	ENSP00000368165.2:p.Arg111=
ENST00000378887.3:c.333C>G	ENSP00000368165.2:p.Arg111=
NM_001042631.2:c.333C>G	NP_001036096.1:p.Arg111=
NM_001042631.3:c.333C>G MANE Select	NP_001036096.2:p.Arg111=