Canonical Allele Identifier: CA293458

Gene: SDHAF1

Linked Data

• ClinVar Variation Id: 139090
• ClinVar RCV Id: RCV000128020 ; RCV001124926 ; RCV000996848
• dbSNP Id: rs78119534
• ExAC: 19:36486510 C / T
• gnomAD v2: 19-36486510-C-T
• gnomAD v3: 19-35995608-C-T
• gnomAD v4: 19-35995608-C-T
• MyVariant Identifiers: chr19:g.36486510C>T (hg19) ; chr19:g.35995608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35995608C>T , CM000681.2:g.35995608C>T	GRCh38
NC_000019.9:g.36486510C>T , CM000681.1:g.36486510C>T	GRCh37
NC_000019.8:g.41178350C>T	NCBI36
NG_016869.1:g.5421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378887.4:c.334C>T MANE Select	ENSP00000368165.2:p.Pro112Ser
ENST00000378887.3:c.334C>T	ENSP00000368165.2:p.Pro112Ser
NM_001042631.2:c.334C>T	NP_001036096.1:p.Pro112Ser
NM_001042631.3:c.334C>T MANE Select	NP_001036096.2:p.Pro112Ser