Canonical Allele Identifier: CA345441948

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680579A>C (hg19) ; chr1:g.241517279A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517279A>C , CM000663.2:g.241517279A>C	GRCh38
NC_000001.10:g.241680579A>C , CM000663.1:g.241680579A>C	GRCh37
NC_000001.9:g.239747202A>C	NCBI36
NG_012338.1:g.7476T>G , LRG_504:g.7476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.673T>G
ENST00000682162.1:c.199T>G	ENSP00000508203.1:n.199T>G
ENST00000682567.1:n.247T>G
ENST00000683521.1:c.170T>G	ENSP00000506864.1:p.Phe57Cys
ENST00000684483.1:c.170T>G	ENSP00000507894.1:p.Phe57Cys
ENST00000366560.4:c.170T>G MANE Select	ENSP00000355518.4:p.Phe57Cys
ENST00000366560.3:c.170T>G	ENSP00000355518.3:p.Phe57Cys
ENST00000493477.1:n.283T>G
NM_000143.3:c.170T>G , LRG_504t1:c.170T>G	NP_000134.2:p.Phe57Cys
XM_011544132.1:c.-59T>G	XP_011542434.1:n.-59T>G
XM_011544132.2:c.-59T>G	XP_011542434.1:n.-59T>G
NM_000143.4:c.170T>G MANE Select	NP_000134.2:p.Phe57Cys