Canonical Allele Identifier: CA1478573
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 460382
dbSNP Id: rs147991516

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504233A>G , CM000663.2:g.241504233A>G GRCh38
NC_000001.10:g.241667533A>G , CM000663.1:g.241667533A>G GRCh37
NC_000001.9:g.239734156A>G NCBI36
NG_012338.1:g.20522T>C , LRG_504:g.20522T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1420T>C
ENST00000682162.1:c.946T>C ENSP00000508203.1:n.946T>C
ENST00000682567.1:n.994T>C
ENST00000683521.1:c.917T>C ENSP00000506864.1:p.Val306Ala
ENST00000684161.1:n.2132T>C
ENST00000684483.1:c.*313T>C ENSP00000507894.1:n.*313T>C
ENST00000366560.4:c.917T>C MANE Select ENSP00000355518.4:p.Val306Ala
ENST00000366560.3:c.917T>C ENSP00000355518.3:p.Val306Ala
NM_000143.3:c.917T>C , LRG_504t1:c.917T>C NP_000134.2:p.Val306Ala
XM_011544132.1:c.689T>C XP_011542434.1:p.Val230Ala
XM_011544132.2:c.689T>C XP_011542434.1:p.Val230Ala
NM_000143.4:c.917T>C MANE Select NP_000134.2:p.Val306Ala