Canonical Allele Identifier: CA424076607

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680569T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517269T>G , CM000663.2:g.241517269T>G	GRCh38
NC_000001.10:g.241680569T>G , CM000663.1:g.241680569T>G	GRCh37
NC_000001.9:g.239747192T>G	NCBI36
NG_012338.1:g.7486A>C , LRG_504:g.7486A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.683A>C
ENST00000682162.1:c.209A>C	ENSP00000508203.1:n.209A>C
ENST00000682567.1:n.257A>C
ENST00000683521.1:c.180A>C	ENSP00000506864.1:p.Leu60=
ENST00000684483.1:c.180A>C	ENSP00000507894.1:p.Leu60=
ENST00000366560.4:c.180A>C MANE Select	ENSP00000355518.4:p.Leu60=
ENST00000366560.3:c.180A>C	ENSP00000355518.3:p.Leu60=
ENST00000493477.1:n.293A>C
NM_000143.3:c.180A>C , LRG_504t1:c.180A>C	NP_000134.2:p.Leu60=
XM_011544132.1:c.-49A>C	XP_011542434.1:n.-49A>C
XM_011544132.2:c.-49A>C	XP_011542434.1:n.-49A>C
NM_000143.4:c.180A>C MANE Select	NP_000134.2:p.Leu60=