Canonical Allele Identifier: CA322251

Gene: FH

Linked Data

• ClinVar Variation Id: 214413
• ClinVar RCV Id: RCV000197788 ; RCV000493445
• dbSNP Id: rs863224000
• MyVariant Identifiers: chr1:g.241667516A>G (hg19) ; chr1:g.241504216A>G (hg38)
• PubMed: PMID:9635293 ; PMID:21398687

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504216A>G , CM000663.2:g.241504216A>G	GRCh38
NC_000001.10:g.241667516A>G , CM000663.1:g.241667516A>G	GRCh37
NC_000001.9:g.239734139A>G	NCBI36
NG_012338.1:g.20539T>C , LRG_504:g.20539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1437T>C
ENST00000682162.1:c.963T>C	ENSP00000508203.1:n.963T>C
ENST00000682567.1:n.1011T>C
ENST00000683521.1:c.934T>C	ENSP00000506864.1:p.Phe312Leu
ENST00000684161.1:n.2149T>C
ENST00000684483.1:c.*330T>C	ENSP00000507894.1:n.*330T>C
ENST00000366560.4:c.934T>C MANE Select	ENSP00000355518.4:p.Phe312Leu
ENST00000366560.3:c.934T>C	ENSP00000355518.3:p.Phe312Leu
NM_000143.3:c.934T>C , LRG_504t1:c.934T>C	NP_000134.2:p.Phe312Leu
XM_011544132.1:c.706T>C	XP_011542434.1:p.Phe236Leu
XM_011544132.2:c.706T>C	XP_011542434.1:p.Phe236Leu
NM_000143.4:c.934T>C MANE Select	NP_000134.2:p.Phe312Leu