Canonical Allele Identifier: CA424076038

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671942A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508642A>G , CM000663.2:g.241508642A>G	GRCh38
NC_000001.10:g.241671942A>G , CM000663.1:g.241671942A>G	GRCh37
NC_000001.9:g.239738565A>G	NCBI36
NG_012338.1:g.16113T>C , LRG_504:g.16113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1202T>C
ENST00000682162.1:c.728T>C	ENSP00000508203.1:n.728T>C
ENST00000682567.1:n.776T>C
ENST00000683521.1:c.699T>C	ENSP00000506864.1:p.Arg233=
ENST00000684161.1:n.1914T>C
ENST00000684483.1:c.*95T>C	ENSP00000507894.1:n.*95T>C
ENST00000366560.4:c.699T>C MANE Select	ENSP00000355518.4:p.Arg233=
ENST00000366560.3:c.699T>C	ENSP00000355518.3:p.Arg233=
NM_000143.3:c.699T>C , LRG_504t1:c.699T>C	NP_000134.2:p.Arg233=
XM_011544132.1:c.471T>C	XP_011542434.1:p.Arg157=
XM_011544132.2:c.471T>C	XP_011542434.1:p.Arg157=
NM_000143.4:c.699T>C MANE Select	NP_000134.2:p.Arg233=