Canonical Allele Identifier: CA345441960
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 819805
dbSNP Id: rs1433872618

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517282G>C , CM000663.2:g.241517282G>C GRCh38
NC_000001.10:g.241680582G>C , CM000663.1:g.241680582G>C GRCh37
NC_000001.9:g.239747205G>C NCBI36
NG_012338.1:g.7473C>G , LRG_504:g.7473C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.670C>G
ENST00000682162.1:c.196C>G ENSP00000508203.1:n.196C>G
ENST00000682567.1:n.244C>G
ENST00000683521.1:c.167C>G ENSP00000506864.1:p.Thr56Ser
ENST00000684483.1:c.167C>G ENSP00000507894.1:p.Thr56Ser
ENST00000366560.4:c.167C>G MANE Select ENSP00000355518.4:p.Thr56Ser
ENST00000366560.3:c.167C>G ENSP00000355518.3:p.Thr56Ser
ENST00000493477.1:n.280C>G
NM_000143.3:c.167C>G , LRG_504t1:c.167C>G NP_000134.2:p.Thr56Ser
XM_011544132.1:c.-62C>G XP_011542434.1:n.-62C>G
XM_011544132.2:c.-62C>G XP_011542434.1:n.-62C>G
NM_000143.4:c.167C>G MANE Select NP_000134.2:p.Thr56Ser