Canonical Allele Identifier: CA10638839

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 305104
• ClinVar RCV Id: RCV000266503
• dbSNP Id: rs886048421
• gnomAD v3: 11-61446517-C-G
• gnomAD v4: 11-61446517-C-G
• MyVariant Identifiers: chr11:g.61213989C>G (hg19) ; chr11:g.61446517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446517C>G , CM000673.2:g.61446517C>G	GRCh38
NC_000011.9:g.61213989C>G , CM000673.1:g.61213989C>G	GRCh37
NC_000011.8:g.60970565C>G	NCBI36
NG_023393.1:g.21393C>G , LRG_519:g.21393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*446C>G MANE Select	ENSP00000301761.3:n.*446C>G
ENST00000301761.6:c.*446C>G	ENSP00000301761.2:n.*446C>G
ENST00000536670.5:n.396+8404C>G
ENST00000538594.5:c.370+8404C>G	ENSP00000440939.1:n.370+8404C>G
ENST00000541135.5:c.377+8397C>G	ENSP00000443130.1:n.377+8397C>G
ENST00000542074.1:c.*526C>G	ENSP00000469670.1:n.*526C>G
ENST00000543044.2:c.*160+286C>G	ENSP00000440219.1:n.*160+286C>G
ENST00000544025.5:n.465+8404C>G
ENST00000544801.5:c.370+8404C>G	ENSP00000442581.1:n.370+8404C>G
ENST00000544880.1:n.374+8404C>G
NM_017841.2:c.*446C>G , LRG_519t1:c.*446C>G	NP_060311.1:n.*446C>G
NM_017841.4:c.*446C>G MANE Select	NP_060311.1:n.*446C>G