Canonical Allele Identifier: CA167288

Gene: FH

Linked Data

• ClinVar Variation Id: 16232
• ClinVar RCV Id: RCV000017619 ; RCV000199330 ; RCV000130873 ; RCV000515176
• dbSNP Id: rs121913120
• gnomAD v3: 1-241513680-G-A
• gnomAD v4: 1-241513680-G-A
• MyVariant Identifiers: chr1:g.241676980G>A (hg19) ; chr1:g.241513680G>A (hg38)
• PubMed: PMID:11865300 ; PMID:15937070 ; PMID:16597677 ; PMID:21398687

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513680G>A , CM000663.2:g.241513680G>A	GRCh38
NC_000001.10:g.241676980G>A , CM000663.1:g.241676980G>A	GRCh37
NC_000001.9:g.239743603G>A	NCBI36
NG_012338.1:g.11075C>T , LRG_504:g.11075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.804C>T
ENST00000682162.1:c.330C>T	ENSP00000508203.1:n.330C>T
ENST00000682567.1:n.378C>T
ENST00000683521.1:c.301C>T	ENSP00000506864.1:p.Arg101Ter
ENST00000684483.1:c.301C>T	ENSP00000507894.1:p.Arg101Ter
ENST00000366560.4:c.301C>T MANE Select	ENSP00000355518.4:p.Arg101Ter
ENST00000366560.3:c.301C>T	ENSP00000355518.3:p.Arg101Ter
ENST00000493477.1:n.414C>T
NM_000143.3:c.301C>T , LRG_504t1:c.301C>T	NP_000134.2:p.Arg101Ter
XM_011544132.1:c.73C>T	XP_011542434.1:p.Arg25Ter
XM_011544132.2:c.73C>T	XP_011542434.1:p.Arg25Ter
NM_000143.4:c.301C>T MANE Select	NP_000134.2:p.Arg101Ter