Canonical Allele Identifier: CA1478431

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497890A>G , CM000663.2:g.241497890A>G	GRCh38
NC_000001.10:g.241661190A>G , CM000663.1:g.241661190A>G	GRCh37
NC_000001.9:g.239727813A>G	NCBI36
NG_012338.1:g.26865T>C , LRG_504:g.26865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1974T>C
ENST00000682162.1:c.1500T>C	ENSP00000508203.1:n.1500T>C
ENST00000682567.1:n.4871T>C
ENST00000684161.1:n.2686T>C
ENST00000684483.1:c.*867T>C	ENSP00000507894.1:n.*867T>C
ENST00000366560.4:c.1471T>C MANE Select	ENSP00000355518.4:p.Tyr491His
ENST00000366560.3:c.1471T>C	ENSP00000355518.3:p.Tyr491His
NM_000143.3:c.1471T>C , LRG_504t1:c.1471T>C	NP_000134.2:p.Tyr491His
XM_011544132.1:c.1243T>C	XP_011542434.1:p.Tyr415His
XM_011544132.2:c.1243T>C	XP_011542434.1:p.Tyr415His
NM_000143.4:c.1471T>C MANE Select	NP_000134.2:p.Tyr491His