Canonical Allele Identifier: CA1478684

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512108G>A , CM000663.2:g.241512108G>A	GRCh38
NC_000001.10:g.241675408G>A , CM000663.1:g.241675408G>A	GRCh37
NC_000001.9:g.239742031G>A	NCBI36
NG_012338.1:g.12647C>T , LRG_504:g.12647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.414C>T MANE Select	NP_000134.2:p.Leu138=
ENST00000366560.4:c.414C>T MANE Select	ENSP00000355518.4:p.Leu138=
NM_000143.3:c.414C>T , LRG_504t1:c.414C>T	NP_000134.2:p.Leu138=
ENST00000366560.3:c.414C>T	ENSP00000355518.3:p.Leu138=
ENST00000493477.2:n.917C>T
ENST00000497042.1:n.110C>T
ENST00000682162.1:c.443C>T	ENSP00000508203.1:n.443C>T
ENST00000682567.1:n.491C>T
ENST00000683521.1:c.414C>T	ENSP00000506864.1:p.Leu138=
ENST00000684483.1:c.414C>T	ENSP00000507894.1:p.Leu138=
XM_011544132.1:c.186C>T	XP_011542434.1:p.Leu62=
XM_011544132.2:c.186C>T	XP_011542434.1:p.Leu62=