Canonical Allele Identifier: CA345442001

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680594A>C (hg19) ; chr1:g.241517294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517294A>C , CM000663.2:g.241517294A>C	GRCh38
NC_000001.10:g.241680594A>C , CM000663.1:g.241680594A>C	GRCh37
NC_000001.9:g.239747217A>C	NCBI36
NG_012338.1:g.7461T>G , LRG_504:g.7461T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.658T>G
ENST00000682162.1:c.184T>G	ENSP00000508203.1:p.Ter62Glu
ENST00000682567.1:n.232T>G
ENST00000683521.1:c.155T>G	ENSP00000506864.1:p.Ile52Arg
ENST00000684483.1:c.155T>G	ENSP00000507894.1:p.Ile52Arg
ENST00000366560.4:c.155T>G MANE Select	ENSP00000355518.4:p.Ile52Arg
ENST00000366560.3:c.155T>G	ENSP00000355518.3:p.Ile52Arg
ENST00000493477.1:n.268T>G
NM_000143.3:c.155T>G , LRG_504t1:c.155T>G	NP_000134.2:p.Ile52Arg
XM_011544132.1:c.-74T>G	XP_011542434.1:n.-74T>G
XM_011544132.2:c.-74T>G	XP_011542434.1:n.-74T>G
NM_000143.4:c.155T>G MANE Select	NP_000134.2:p.Ile52Arg