Canonical Allele Identifier: CA345442058

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680613T>A (hg19) ; chr1:g.241517313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517313T>A , CM000663.2:g.241517313T>A	GRCh38
NC_000001.10:g.241680613T>A , CM000663.1:g.241680613T>A	GRCh37
NC_000001.9:g.239747236T>A	NCBI36
NG_012338.1:g.7442A>T , LRG_504:g.7442A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.639A>T
ENST00000682162.1:c.165A>T	ENSP00000508203.1:p.Gln55His
ENST00000682567.1:n.213A>T
ENST00000683521.1:c.136A>T	ENSP00000506864.1:p.Ser46Cys
ENST00000684483.1:c.136A>T	ENSP00000507894.1:p.Ser46Cys
ENST00000366560.4:c.136A>T MANE Select	ENSP00000355518.4:p.Ser46Cys
ENST00000366560.3:c.136A>T	ENSP00000355518.3:p.Ser46Cys
ENST00000493477.1:n.249A>T
NM_000143.3:c.136A>T , LRG_504t1:c.136A>T	NP_000134.2:p.Ser46Cys
XM_011544132.1:c.-93A>T	XP_011542434.1:n.-93A>T
XM_011544132.2:c.-93A>T	XP_011542434.1:n.-93A>T
NM_000143.4:c.136A>T MANE Select	NP_000134.2:p.Ser46Cys