Canonical Allele Identifier: CA16610057

Gene: FH

Linked Data

• ClinVar Variation Id: 405932
• ClinVar RCV Id: RCV002523296
• dbSNP Id: rs1060500905
• MyVariant Identifiers: chr1:g.241671971C>T (hg19) ; chr1:g.241508671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508671C>T , CM000663.2:g.241508671C>T	GRCh38
NC_000001.10:g.241671971C>T , CM000663.1:g.241671971C>T	GRCh37
NC_000001.9:g.239738594C>T	NCBI36
NG_012338.1:g.16084G>A , LRG_504:g.16084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1173G>A
ENST00000682162.1:c.699G>A	ENSP00000508203.1:n.699G>A
ENST00000682567.1:n.747G>A
ENST00000683521.1:c.670G>A	ENSP00000506864.1:p.Glu224Lys
ENST00000684161.1:n.1885G>A
ENST00000684483.1:c.*66G>A	ENSP00000507894.1:n.*66G>A
ENST00000366560.4:c.670G>A MANE Select	ENSP00000355518.4:p.Glu224Lys
ENST00000366560.3:c.670G>A	ENSP00000355518.3:p.Glu224Lys
NM_000143.3:c.670G>A , LRG_504t1:c.670G>A	NP_000134.2:p.Glu224Lys
XM_011544132.1:c.442G>A	XP_011542434.1:p.Glu148Lys
XM_011544132.2:c.442G>A	XP_011542434.1:p.Glu148Lys
NM_000143.4:c.670G>A MANE Select	NP_000134.2:p.Glu224Lys