Canonical Allele Identifier: CA345438366

Gene: FH

Linked Data

• ClinVar Variation Id: 2758309
• ClinVar RCV Id: RCV003569632
• MyVariant Identifiers: chr1:g.241667510C>T (hg19) ; chr1:g.241504210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504210C>T , CM000663.2:g.241504210C>T	GRCh38
NC_000001.10:g.241667510C>T , CM000663.1:g.241667510C>T	GRCh37
NC_000001.9:g.239734133C>T	NCBI36
NG_012338.1:g.20545G>A , LRG_504:g.20545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1443G>A
ENST00000682162.1:c.969G>A	ENSP00000508203.1:n.969G>A
ENST00000682567.1:n.1017G>A
ENST00000683521.1:c.940G>A	ENSP00000506864.1:p.Ala314Thr
ENST00000684161.1:n.2155G>A
ENST00000684483.1:c.*336G>A	ENSP00000507894.1:n.*336G>A
ENST00000366560.4:c.940G>A MANE Select	ENSP00000355518.4:p.Ala314Thr
ENST00000366560.3:c.940G>A	ENSP00000355518.3:p.Ala314Thr
NM_000143.3:c.940G>A , LRG_504t1:c.940G>A	NP_000134.2:p.Ala314Thr
XM_011544132.1:c.712G>A	XP_011542434.1:p.Ala238Thr
XM_011544132.2:c.712G>A	XP_011542434.1:p.Ala238Thr
NM_000143.4:c.940G>A MANE Select	NP_000134.2:p.Ala314Thr