Canonical Allele Identifier: CA345437496

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502525G>A , CM000663.2:g.241502525G>A	GRCh38
NC_000001.10:g.241665825G>A , CM000663.1:g.241665825G>A	GRCh37
NC_000001.9:g.239732448G>A	NCBI36
NG_012338.1:g.22230C>T , LRG_504:g.22230C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.1154C>T MANE Select	NP_000134.2:p.Ala385Val
ENST00000366560.4:c.1154C>T MANE Select	ENSP00000355518.4:p.Ala385Val
NM_000143.3:c.1154C>T , LRG_504t1:c.1154C>T	NP_000134.2:p.Ala385Val
ENST00000366560.3:c.1154C>T	ENSP00000355518.3:p.Ala385Val
ENST00000493477.2:n.1657C>T
ENST00000682162.1:c.1183C>T	ENSP00000508203.1:n.1183C>T
ENST00000682567.1:n.2702C>T
ENST00000683521.1:c.1154C>T	ENSP00000506864.1:p.Ala385Val
ENST00000684161.1:n.2369C>T
ENST00000684483.1:c.*550C>T	ENSP00000507894.1:n.*550C>T
XM_011544132.1:c.926C>T	XP_011542434.1:p.Ala309Val
XM_011544132.2:c.926C>T	XP_011542434.1:p.Ala309Val