Canonical Allele Identifier: CA1478683

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512107C>T , CM000663.2:g.241512107C>T	GRCh38
NC_000001.10:g.241675407C>T , CM000663.1:g.241675407C>T	GRCh37
NC_000001.9:g.239742030C>T	NCBI36
NG_012338.1:g.12648G>A , LRG_504:g.12648G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.415G>A MANE Select	NP_000134.2:p.Val139Met
ENST00000366560.4:c.415G>A MANE Select	ENSP00000355518.4:p.Val139Met
NM_000143.3:c.415G>A , LRG_504t1:c.415G>A	NP_000134.2:p.Val139Met
ENST00000366560.3:c.415G>A	ENSP00000355518.3:p.Val139Met
ENST00000493477.2:n.918G>A
ENST00000497042.1:n.111G>A
ENST00000682162.1:c.444G>A	ENSP00000508203.1:n.444G>A
ENST00000682567.1:n.492G>A
ENST00000683521.1:c.415G>A	ENSP00000506864.1:p.Val139Met
ENST00000684483.1:c.415G>A	ENSP00000507894.1:p.Val139Met
XM_011544132.1:c.187G>A	XP_011542434.1:p.Val63Met
XM_011544132.2:c.187G>A	XP_011542434.1:p.Val63Met