Canonical Allele Identifier: CA345438322

Gene: FH

Linked Data

• ClinVar Variation Id: 2485528
• ClinVar RCV Id: RCV003219455
• MyVariant Identifiers: chr1:g.241667485A>T (hg19) ; chr1:g.241504185A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504185A>T , CM000663.2:g.241504185A>T	GRCh38
NC_000001.10:g.241667485A>T , CM000663.1:g.241667485A>T	GRCh37
NC_000001.9:g.239734108A>T	NCBI36
NG_012338.1:g.20570T>A , LRG_504:g.20570T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1468T>A
ENST00000682162.1:c.994T>A	ENSP00000508203.1:n.994T>A
ENST00000682567.1:n.1042T>A
ENST00000683521.1:c.965T>A	ENSP00000506864.1:p.Val322Asp
ENST00000684161.1:n.2180T>A
ENST00000684483.1:c.*361T>A	ENSP00000507894.1:n.*361T>A
ENST00000366560.4:c.965T>A MANE Select	ENSP00000355518.4:p.Val322Asp
ENST00000366560.3:c.965T>A	ENSP00000355518.3:p.Val322Asp
NM_000143.3:c.965T>A , LRG_504t1:c.965T>A	NP_000134.2:p.Val322Asp
XM_011544132.1:c.737T>A	XP_011542434.1:p.Val246Asp
XM_011544132.2:c.737T>A	XP_011542434.1:p.Val246Asp
NM_000143.4:c.965T>A MANE Select	NP_000134.2:p.Val322Asp