Canonical Allele Identifier: CA424076068

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671978T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508678T>C , CM000663.2:g.241508678T>C	GRCh38
NC_000001.10:g.241671978T>C , CM000663.1:g.241671978T>C	GRCh37
NC_000001.9:g.239738601T>C	NCBI36
NG_012338.1:g.16077A>G , LRG_504:g.16077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1166A>G
ENST00000682162.1:c.692A>G	ENSP00000508203.1:n.692A>G
ENST00000682567.1:n.740A>G
ENST00000683521.1:c.663A>G	ENSP00000506864.1:p.Lys221=
ENST00000684161.1:n.1878A>G
ENST00000684483.1:c.*59A>G	ENSP00000507894.1:n.*59A>G
ENST00000366560.4:c.663A>G MANE Select	ENSP00000355518.4:p.Lys221=
ENST00000366560.3:c.663A>G	ENSP00000355518.3:p.Lys221=
NM_000143.3:c.663A>G , LRG_504t1:c.663A>G	NP_000134.2:p.Lys221=
XM_011544132.1:c.435A>G	XP_011542434.1:p.Lys145=
XM_011544132.2:c.435A>G	XP_011542434.1:p.Lys145=
NM_000143.4:c.663A>G MANE Select	NP_000134.2:p.Lys221=