Canonical Allele Identifier: CA16609366

Gene: FH

Linked Data

• ClinVar Variation Id: 393574
• ClinVar RCV Id: RCV000445614 ; RCV000494229 ; RCV000489286
• dbSNP Id: rs1060499639
• MyVariant Identifiers: chr1:g.241669384C>G (hg19) ; chr1:g.241506084C>G (hg38)
• PubMed: PMID:20618355 ; PMID:22561013

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506084C>G , CM000663.2:g.241506084C>G	GRCh38
NC_000001.10:g.241669384C>G , CM000663.1:g.241669384C>G	GRCh37
NC_000001.9:g.239736007C>G	NCBI36
NG_012338.1:g.18671G>C , LRG_504:g.18671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1326G>C
ENST00000682162.1:c.852G>C	ENSP00000508203.1:n.852G>C
ENST00000682567.1:n.900G>C
ENST00000683521.1:c.823G>C	ENSP00000506864.1:p.Gly275Arg
ENST00000684161.1:n.2038G>C
ENST00000684483.1:c.*219G>C	ENSP00000507894.1:n.*219G>C
ENST00000366560.4:c.823G>C MANE Select	ENSP00000355518.4:p.Gly275Arg
ENST00000366560.3:c.823G>C	ENSP00000355518.3:p.Gly275Arg
NM_000143.3:c.823G>C , LRG_504t1:c.823G>C	NP_000134.2:p.Gly275Arg
XM_011544132.1:c.595G>C	XP_011542434.1:p.Gly199Arg
XM_011544132.2:c.595G>C	XP_011542434.1:p.Gly199Arg
NM_000143.4:c.823G>C MANE Select	NP_000134.2:p.Gly275Arg