Canonical Allele Identifier: CA257456
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 92455
dbSNP Id: rs121913121

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241513661T>G , CM000663.2:g.241513661T>G GRCh38
NC_000001.10:g.241676961T>G , CM000663.1:g.241676961T>G GRCh37
NC_000001.9:g.239743584T>G NCBI36
NG_012338.1:g.11094A>C , LRG_504:g.11094A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.823A>C
ENST00000682162.1:c.349A>C ENSP00000508203.1:n.349A>C
ENST00000682567.1:n.397A>C
ENST00000683521.1:c.320A>C ENSP00000506864.1:p.Asn107Thr
ENST00000684483.1:c.320A>C ENSP00000507894.1:p.Asn107Thr
ENST00000366560.4:c.320A>C MANE Select ENSP00000355518.4:p.Asn107Thr
ENST00000366560.3:c.320A>C ENSP00000355518.3:p.Asn107Thr
ENST00000497042.1:n.16A>C
NM_000143.3:c.320A>C , LRG_504t1:c.320A>C NP_000134.2:p.Asn107Thr
XM_011544132.1:c.92A>C XP_011542434.1:p.Asn31Thr
XM_011544132.2:c.92A>C XP_011542434.1:p.Asn31Thr
NM_000143.4:c.320A>C MANE Select NP_000134.2:p.Asn107Thr