Canonical Allele Identifier: CA165194

Gene: FH

Linked Data

• ClinVar Variation Id: 141355
• ClinVar RCV Id: RCV000129845 ; RCV000153237 ; RCV000549060
• dbSNP Id: rs587781682
• gnomAD v3: 1-241508644-G-A
• gnomAD v4: 1-241508644-G-A
• MyVariant Identifiers: chr1:g.241671944G>A (hg19) ; chr1:g.241508644G>A (hg38)
• PubMed: PMID:9300800 ; PMID:11865300 ; PMID:15761418 ; PMID:15937070 ; PMID:18366737 ; PMID:20549362 ; PMID:20618355 ; PMID:21398687 ; PMID:21404119 ; PMID:21445611

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508644G>A , CM000663.2:g.241508644G>A	GRCh38
NC_000001.10:g.241671944G>A , CM000663.1:g.241671944G>A	GRCh37
NC_000001.9:g.239738567G>A	NCBI36
NG_012338.1:g.16111C>T , LRG_504:g.16111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1200C>T
ENST00000682162.1:c.726C>T	ENSP00000508203.1:n.726C>T
ENST00000682567.1:n.774C>T
ENST00000683521.1:c.697C>T	ENSP00000506864.1:p.Arg233Cys
ENST00000684161.1:n.1912C>T
ENST00000684483.1:c.*93C>T	ENSP00000507894.1:n.*93C>T
ENST00000366560.4:c.697C>T MANE Select	ENSP00000355518.4:p.Arg233Cys
ENST00000366560.3:c.697C>T	ENSP00000355518.3:p.Arg233Cys
NM_000143.3:c.697C>T , LRG_504t1:c.697C>T	NP_000134.2:p.Arg233Cys
XM_011544132.1:c.469C>T	XP_011542434.1:p.Arg157Cys
XM_011544132.2:c.469C>T	XP_011542434.1:p.Arg157Cys
NM_000143.4:c.697C>T MANE Select	NP_000134.2:p.Arg233Cys