Canonical Allele Identifier: CA347392

Gene: FH

Linked Data

• ClinVar Variation Id: 208374
• ClinVar RCV Id: RCV000193655 ; RCV000493531 ; RCV000804152 ; RCV001534141
• dbSNP Id: rs797044973
• MyVariant Identifiers: chr1:g.241667546C>T (hg19) ; chr1:g.241504246C>T (hg38)
• PubMed: PMID:15663510 ; PMID:15761418 ; PMID:20301430

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504246C>T , CM000663.2:g.241504246C>T	GRCh38
NC_000001.10:g.241667546C>T , CM000663.1:g.241667546C>T	GRCh37
NC_000001.9:g.239734169C>T	NCBI36
NG_012338.1:g.20509G>A , LRG_504:g.20509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-1G>A
ENST00000682162.1:c.934-1G>A	ENSP00000508203.1:n.934-1G>A
ENST00000682567.1:n.982-1G>A
ENST00000683521.1:c.905-1G>A	ENSP00000506864.1:n.905-1G>A
ENST00000684161.1:n.2120-1G>A
ENST00000684483.1:c.*301-1G>A	ENSP00000507894.1:n.*301-1G>A
ENST00000366560.4:c.905-1G>A MANE Select	ENSP00000355518.4:n.905-1G>A
ENST00000366560.3:c.905-1G>A	ENSP00000355518.3:n.905-1G>A
NM_000143.3:c.905-1G>A , LRG_504t1:c.905-1G>A	NP_000134.2:n.905-1G>A
XM_011544132.1:c.677-1G>A	XP_011542434.1:n.677-1G>A
XM_011544132.2:c.677-1G>A	XP_011542434.1:n.677-1G>A
NM_000143.4:c.905-1G>A MANE Select	NP_000134.2:n.905-1G>A