Canonical Allele Identifier: CA424076292

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675333T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512033T>C , CM000663.2:g.241512033T>C	GRCh38
NC_000001.10:g.241675333T>C , CM000663.1:g.241675333T>C	GRCh37
NC_000001.9:g.239741956T>C	NCBI36
NG_012338.1:g.12722A>G , LRG_504:g.12722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.992A>G
ENST00000682162.1:c.518A>G	ENSP00000508203.1:n.518A>G
ENST00000682567.1:n.566A>G
ENST00000683521.1:c.489A>G	ENSP00000506864.1:p.Glu163=
ENST00000684483.1:c.489A>G	ENSP00000507894.1:p.Glu163=
ENST00000366560.4:c.489A>G MANE Select	ENSP00000355518.4:p.Glu163=
ENST00000366560.3:c.489A>G	ENSP00000355518.3:p.Glu163=
ENST00000497042.1:n.185A>G
NM_000143.3:c.489A>G , LRG_504t1:c.489A>G	NP_000134.2:p.Glu163=
XM_011544132.1:c.261A>G	XP_011542434.1:p.Glu87=
XM_011544132.2:c.261A>G	XP_011542434.1:p.Glu87=
NM_000143.4:c.489A>G MANE Select	NP_000134.2:p.Glu163=