Canonical Allele Identifier: CA345438306

Gene: FH

Linked Data

• ClinVar Variation Id: 1511238
• ClinVar RCV Id: RCV002548750 ; RCV002386904
• dbSNP Id: rs201124581
• MyVariant Identifiers: chr1:g.241667477T>A (hg19) ; chr1:g.241504177T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504177T>A , CM000663.2:g.241504177T>A	GRCh38
NC_000001.10:g.241667477T>A , CM000663.1:g.241667477T>A	GRCh37
NC_000001.9:g.239734100T>A	NCBI36
NG_012338.1:g.20578A>T , LRG_504:g.20578A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1476A>T
ENST00000682162.1:c.1002A>T	ENSP00000508203.1:n.1002A>T
ENST00000682567.1:n.1050A>T
ENST00000683521.1:c.973A>T	ENSP00000506864.1:p.Ser325Cys
ENST00000684161.1:n.2188A>T
ENST00000684483.1:c.*369A>T	ENSP00000507894.1:n.*369A>T
ENST00000366560.4:c.973A>T MANE Select	ENSP00000355518.4:p.Ser325Cys
ENST00000366560.3:c.973A>T	ENSP00000355518.3:p.Ser325Cys
NM_000143.3:c.973A>T , LRG_504t1:c.973A>T	NP_000134.2:p.Ser325Cys
XM_011544132.1:c.745A>T	XP_011542434.1:p.Ser249Cys
XM_011544132.2:c.745A>T	XP_011542434.1:p.Ser249Cys
NM_000143.4:c.973A>T MANE Select	NP_000134.2:p.Ser325Cys