Canonical Allele Identifier: CA345440009

Gene: FH

Linked Data

• ClinVar Variation Id: 1995034
• ClinVar RCV Id: RCV002791580
• MyVariant Identifiers: chr1:g.241675342T>A (hg19) ; chr1:g.241512042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512042T>A , CM000663.2:g.241512042T>A	GRCh38
NC_000001.10:g.241675342T>A , CM000663.1:g.241675342T>A	GRCh37
NC_000001.9:g.239741965T>A	NCBI36
NG_012338.1:g.12713A>T , LRG_504:g.12713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.983A>T
ENST00000682162.1:c.509A>T	ENSP00000508203.1:n.509A>T
ENST00000682567.1:n.557A>T
ENST00000683521.1:c.480A>T	ENSP00000506864.1:p.Arg160Ser
ENST00000684483.1:c.480A>T	ENSP00000507894.1:p.Arg160Ser
ENST00000366560.4:c.480A>T MANE Select	ENSP00000355518.4:p.Arg160Ser
ENST00000366560.3:c.480A>T	ENSP00000355518.3:p.Arg160Ser
ENST00000497042.1:n.176A>T
NM_000143.3:c.480A>T , LRG_504t1:c.480A>T	NP_000134.2:p.Arg160Ser
XM_011544132.1:c.252A>T	XP_011542434.1:p.Arg84Ser
XM_011544132.2:c.252A>T	XP_011542434.1:p.Arg84Ser
NM_000143.4:c.480A>T MANE Select	NP_000134.2:p.Arg160Ser