Canonical Allele Identifier: CA16613603

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 411606
• ClinVar RCV Id: RCV000461982 ; RCV002365662
• dbSNP Id: rs1060503391
• gnomAD v4: 11-61445955-C-T
• MyVariant Identifiers: chr11:g.61213427C>T (hg19) ; chr11:g.61445955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445955C>T , CM000673.2:g.61445955C>T	GRCh38
NC_000011.9:g.61213427C>T , CM000673.1:g.61213427C>T	GRCh37
NC_000011.8:g.60970003C>T	NCBI36
NG_023393.1:g.20831C>T , LRG_519:g.20831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.385C>T MANE Select	ENSP00000301761.3:p.Pro129Ser
ENST00000301761.6:c.385C>T	ENSP00000301761.2:p.Pro129Ser
ENST00000359614.9:c.*93C>T	ENSP00000352630.5:n.*93C>T
ENST00000536670.5:n.396+7842C>T
ENST00000537782.5:c.*31C>T	ENSP00000469951.1:n.*31C>T
ENST00000538594.5:c.370+7842C>T	ENSP00000440939.1:n.370+7842C>T
ENST00000541135.5:c.377+7835C>T	ENSP00000443130.1:n.377+7835C>T
ENST00000542074.1:c.51C>T	ENSP00000469670.1:p.Pro17=
ENST00000542794.5:c.*387C>T	ENSP00000439983.1:n.*387C>T
ENST00000543044.2:c.349C>T	ENSP00000440219.1:p.Pro117Ser
ENST00000543265.1:c.*8C>T	ENSP00000443660.1:n.*8C>T
ENST00000544025.5:n.465+7842C>T
ENST00000544801.5:c.370+7842C>T	ENSP00000442581.1:n.370+7842C>T
ENST00000544880.1:n.374+7842C>T
NM_017841.2:c.385C>T , LRG_519t1:c.385C>T	NP_060311.1:p.Pro129Ser
NM_017841.4:c.385C>T MANE Select	NP_060311.1:p.Pro129Ser