Canonical Allele Identifier: CA220381
Gene: FH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 29705
dbSNP Id: rs199822819

User contributed link-outs

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
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
ENST00000366560.3:c.521C>G ENSP00000355518.3:p.Pro174Arg
ENST00000497042.1:n.217C>G