Canonical Allele Identifier: CA345437519

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241665834A>C (hg19) ; chr1:g.241502534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502534A>C , CM000663.2:g.241502534A>C	GRCh38
NC_000001.10:g.241665834A>C , CM000663.1:g.241665834A>C	GRCh37
NC_000001.9:g.239732457A>C	NCBI36
NG_012338.1:g.22221T>G , LRG_504:g.22221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1648T>G
ENST00000682162.1:c.1174T>G	ENSP00000508203.1:n.1174T>G
ENST00000682567.1:n.2693T>G
ENST00000683521.1:c.1145T>G	ENSP00000506864.1:p.Met382Arg
ENST00000684161.1:n.2360T>G
ENST00000684483.1:c.*541T>G	ENSP00000507894.1:n.*541T>G
ENST00000366560.4:c.1145T>G MANE Select	ENSP00000355518.4:p.Met382Arg
ENST00000366560.3:c.1145T>G	ENSP00000355518.3:p.Met382Arg
NM_000143.3:c.1145T>G , LRG_504t1:c.1145T>G	NP_000134.2:p.Met382Arg
XM_011544132.1:c.917T>G	XP_011542434.1:p.Met306Arg
XM_011544132.2:c.917T>G	XP_011542434.1:p.Met306Arg
NM_000143.4:c.1145T>G MANE Select	NP_000134.2:p.Met382Arg