Canonical Allele Identifier: CA10588293

Gene: FH

Linked Data

• ClinVar Variation Id: 265145
• ClinVar RCV Id: RCV000254803 ; RCV001062945 ; RCV002429193
• dbSNP Id: rs886039362
• MyVariant Identifiers: chr1:g.241680535T>G (hg19) ; chr1:g.241517235T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517235T>G , CM000663.2:g.241517235T>G	GRCh38
NC_000001.10:g.241680535T>G , CM000663.1:g.241680535T>G	GRCh37
NC_000001.9:g.239747158T>G	NCBI36
NG_012338.1:g.7520A>C , LRG_504:g.7520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.717A>C
ENST00000682162.1:c.243A>C	ENSP00000508203.1:n.243A>C
ENST00000682567.1:n.291A>C
ENST00000683521.1:c.214A>C	ENSP00000506864.1:p.Thr72Pro
ENST00000684483.1:c.214A>C	ENSP00000507894.1:p.Thr72Pro
ENST00000366560.4:c.214A>C MANE Select	ENSP00000355518.4:p.Thr72Pro
ENST00000366560.3:c.214A>C	ENSP00000355518.3:p.Thr72Pro
ENST00000493477.1:n.327A>C
NM_000143.3:c.214A>C , LRG_504t1:c.214A>C	NP_000134.2:p.Thr72Pro
XM_011544132.1:c.-15A>C	XP_011542434.1:n.-15A>C
XM_011544132.2:c.-15A>C	XP_011542434.1:n.-15A>C
NM_000143.4:c.214A>C MANE Select	NP_000134.2:p.Thr72Pro