Canonical Allele Identifier: CA345437997
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504068T>C , CM000663.2:g.241504068T>C GRCh38
NC_000001.10:g.241667368T>C , CM000663.1:g.241667368T>C GRCh37
NC_000001.9:g.239733991T>C NCBI36
NG_012338.1:g.20687A>G , LRG_504:g.20687A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1585A>G
ENST00000682162.1:c.1111A>G ENSP00000508203.1:n.1111A>G
ENST00000682567.1:n.1159A>G
ENST00000683521.1:c.1082A>G ENSP00000506864.1:p.Asn361Ser
ENST00000684161.1:n.2297A>G
ENST00000684483.1:c.*478A>G ENSP00000507894.1:n.*478A>G
ENST00000366560.4:c.1082A>G MANE Select ENSP00000355518.4:p.Asn361Ser
ENST00000366560.3:c.1082A>G ENSP00000355518.3:p.Asn361Ser
NM_000143.3:c.1082A>G , LRG_504t1:c.1082A>G NP_000134.2:p.Asn361Ser
XM_011544132.1:c.854A>G XP_011542434.1:p.Asn285Ser
XM_011544132.2:c.854A>G XP_011542434.1:p.Asn285Ser
NM_000143.4:c.1082A>G MANE Select NP_000134.2:p.Asn361Ser