Canonical Allele Identifier: CA345441933

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680574C>T (hg19) ; chr1:g.241517274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517274C>T , CM000663.2:g.241517274C>T	GRCh38
NC_000001.10:g.241680574C>T , CM000663.1:g.241680574C>T	GRCh37
NC_000001.9:g.239747197C>T	NCBI36
NG_012338.1:g.7481G>A , LRG_504:g.7481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.678G>A
ENST00000682162.1:c.204G>A	ENSP00000508203.1:n.204G>A
ENST00000682567.1:n.252G>A
ENST00000683521.1:c.175G>A	ENSP00000506864.1:p.Glu59Lys
ENST00000684483.1:c.175G>A	ENSP00000507894.1:p.Glu59Lys
ENST00000366560.4:c.175G>A MANE Select	ENSP00000355518.4:p.Glu59Lys
ENST00000366560.3:c.175G>A	ENSP00000355518.3:p.Glu59Lys
ENST00000493477.1:n.288G>A
NM_000143.3:c.175G>A , LRG_504t1:c.175G>A	NP_000134.2:p.Glu59Lys
XM_011544132.1:c.-54G>A	XP_011542434.1:n.-54G>A
XM_011544132.2:c.-54G>A	XP_011542434.1:n.-54G>A
NM_000143.4:c.175G>A MANE Select	NP_000134.2:p.Glu59Lys