Canonical Allele Identifier: CA40338008

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519658A>T , CM000663.2:g.241519658A>T	GRCh38
NC_000001.10:g.241682958A>T , CM000663.1:g.241682958A>T	GRCh37
NC_000001.9:g.239749581A>T	NCBI36
NG_012338.1:g.5097T>A , LRG_504:g.5097T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.65T>A MANE Select	NP_000134.2:p.Leu22Ter
ENST00000366560.4:c.65T>A MANE Select	ENSP00000355518.4:p.Leu22Ter
NM_000143.3:c.65T>A , LRG_504t1:c.65T>A	NP_000134.2:p.Leu22Ter
ENST00000366560.3:c.65T>A	ENSP00000355518.3:p.Leu22Ter
ENST00000493477.2:n.37T>A
ENST00000682162.1:c.65T>A	ENSP00000508203.1:p.Leu22Ter
ENST00000682567.1:n.142T>A
ENST00000683521.1:c.65T>A	ENSP00000506864.1:p.Leu22Ter
ENST00000684483.1:c.65T>A	ENSP00000507894.1:p.Leu22Ter
XM_011544132.2:c.-695T>A	XP_011542434.1:n.-695T>A