Canonical Allele Identifier: CA215566

Gene: FH

Linked Data

• ClinVar Variation Id: 41585
• ClinVar RCV Id: RCV000034487 ; RCV000332300 ; RCV000381370 ; RCV001011508 ; RCV004555533
• dbSNP Id: rs369802820
• ExAC: 1:241661240 G / C
• gnomAD v2: 1-241661240-G-C
• gnomAD v3: 1-241497940-G-C
• gnomAD v4: 1-241497940-G-C
• COSMIC: COSM6301279
• MyVariant Identifiers: chr1:g.241661240G>C (hg19) ; chr1:g.241497940G>C (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497940G>C , CM000663.2:g.241497940G>C	GRCh38
NC_000001.10:g.241661240G>C , CM000663.1:g.241661240G>C	GRCh37
NC_000001.9:g.239727863G>C	NCBI36
NG_012338.1:g.26815C>G , LRG_504:g.26815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1924C>G
ENST00000682162.1:c.1450C>G	ENSP00000508203.1:n.1450C>G
ENST00000682567.1:n.4821C>G
ENST00000684161.1:n.2636C>G
ENST00000684483.1:c.*817C>G	ENSP00000507894.1:n.*817C>G
ENST00000366560.4:c.1421C>G MANE Select	ENSP00000355518.4:p.Thr474Arg
ENST00000366560.3:c.1421C>G	ENSP00000355518.3:p.Thr474Arg
NM_000143.3:c.1421C>G , LRG_504t1:c.1421C>G	NP_000134.2:p.Thr474Arg
XM_011544132.1:c.1193C>G	XP_011542434.1:p.Thr398Arg
XM_011544132.2:c.1193C>G	XP_011542434.1:p.Thr398Arg
NM_000143.4:c.1421C>G MANE Select	NP_000134.2:p.Thr474Arg