Canonical Allele Identifier: CA220381

Gene: FH

Linked Data

• ClinVar Variation Id: 29705
• ClinVar RCV Id: RCV000022554 ; RCV000078149 ; RCV000492836 ; RCV003335052 ; RCV003483435
• dbSNP Id: rs199822819
• ExAC: 1:241675301 G / C
• gnomAD v2: 1-241675301-G-C
• gnomAD v3: 1-241512001-G-C
• gnomAD v4: 1-241512001-G-C
• MyVariant Identifiers: chr1:g.241675301G>C (hg19) ; chr1:g.241512001G>C (hg38)
• PubMed: PMID:12761039 ; PMID:15987702 ; PMID:16237213 ; PMID:16575891 ; PMID:21445611 ; PMID:22069215 ; PMID:22595425 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512001G>C , CM000663.2:g.241512001G>C	GRCh38
NC_000001.10:g.241675301G>C , CM000663.1:g.241675301G>C	GRCh37
NC_000001.9:g.239741924G>C	NCBI36
NG_012338.1:g.12754C>G , LRG_504:g.12754C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1024C>G
ENST00000682162.1:c.550C>G	ENSP00000508203.1:n.550C>G
ENST00000682567.1:n.598C>G
ENST00000683521.1:c.521C>G	ENSP00000506864.1:p.Pro174Arg
ENST00000684483.1:c.521C>G	ENSP00000507894.1:p.Pro174Arg
ENST00000366560.4:c.521C>G MANE Select	ENSP00000355518.4:p.Pro174Arg
ENST00000366560.3:c.521C>G	ENSP00000355518.3:p.Pro174Arg
ENST00000497042.1:n.217C>G
NM_000143.3:c.521C>G , LRG_504t1:c.521C>G	NP_000134.2:p.Pro174Arg
XM_011544132.1:c.293C>G	XP_011542434.1:p.Pro98Arg
XM_011544132.2:c.293C>G	XP_011542434.1:p.Pro98Arg
NM_000143.4:c.521C>G MANE Select	NP_000134.2:p.Pro174Arg