Canonical Allele Identifier: CA424076010

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671906C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508606C>A , CM000663.2:g.241508606C>A	GRCh38
NC_000001.10:g.241671906C>A , CM000663.1:g.241671906C>A	GRCh37
NC_000001.9:g.239738529C>A	NCBI36
NG_012338.1:g.16149G>T , LRG_504:g.16149G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1238G>T
ENST00000682162.1:c.764G>T	ENSP00000508203.1:n.764G>T
ENST00000682567.1:n.812G>T
ENST00000683521.1:c.735G>T	ENSP00000506864.1:p.Gly245=
ENST00000684161.1:n.1950G>T
ENST00000684483.1:c.*131G>T	ENSP00000507894.1:n.*131G>T
ENST00000366560.4:c.735G>T MANE Select	ENSP00000355518.4:p.Gly245=
ENST00000366560.3:c.735G>T	ENSP00000355518.3:p.Gly245=
NM_000143.3:c.735G>T , LRG_504t1:c.735G>T	NP_000134.2:p.Gly245=
XM_011544132.1:c.507G>T	XP_011542434.1:p.Gly169=
XM_011544132.2:c.507G>T	XP_011542434.1:p.Gly169=
NM_000143.4:c.735G>T MANE Select	NP_000134.2:p.Gly245=