Canonical Allele Identifier: CA345440025

Gene: FH

Linked Data

• ClinVar Variation Id: 964551
• ClinVar RCV Id: RCV002563924
• dbSNP Id: rs1060500902
• MyVariant Identifiers: chr1:g.241675349C>A (hg19) ; chr1:g.241512049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512049C>A , CM000663.2:g.241512049C>A	GRCh38
NC_000001.10:g.241675349C>A , CM000663.1:g.241675349C>A	GRCh37
NC_000001.9:g.239741972C>A	NCBI36
NG_012338.1:g.12706G>T , LRG_504:g.12706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.976G>T
ENST00000682162.1:c.502G>T	ENSP00000508203.1:n.502G>T
ENST00000682567.1:n.550G>T
ENST00000683521.1:c.473G>T	ENSP00000506864.1:p.Ser158Ile
ENST00000684483.1:c.473G>T	ENSP00000507894.1:p.Ser158Ile
ENST00000366560.4:c.473G>T MANE Select	ENSP00000355518.4:p.Ser158Ile
ENST00000366560.3:c.473G>T	ENSP00000355518.3:p.Ser158Ile
ENST00000497042.1:n.169G>T
NM_000143.3:c.473G>T , LRG_504t1:c.473G>T	NP_000134.2:p.Ser158Ile
XM_011544132.1:c.245G>T	XP_011542434.1:p.Ser82Ile
XM_011544132.2:c.245G>T	XP_011542434.1:p.Ser82Ile
NM_000143.4:c.473G>T MANE Select	NP_000134.2:p.Ser158Ile