Canonical Allele Identifier: CA345442071

Gene: FH

Linked Data

• ClinVar Variation Id: 818892
• ClinVar RCV Id: RCV001010940 ; RCV002549331
• dbSNP Id: rs1260007300
• gnomAD v2: 1-241680616-C-A
• MyVariant Identifiers: chr1:g.241680616C>A (hg19) ; chr1:g.241517316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517316C>A , CM000663.2:g.241517316C>A	GRCh38
NC_000001.10:g.241680616C>A , CM000663.1:g.241680616C>A	GRCh37
NC_000001.9:g.239747239C>A	NCBI36
NG_012338.1:g.7439G>T , LRG_504:g.7439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.636G>T
ENST00000682162.1:c.162G>T	ENSP00000508203.1:p.Arg54Ser
ENST00000682567.1:n.210G>T
ENST00000683521.1:c.133G>T	ENSP00000506864.1:p.Ala45Ser
ENST00000684483.1:c.133G>T	ENSP00000507894.1:p.Ala45Ser
ENST00000366560.4:c.133G>T MANE Select	ENSP00000355518.4:p.Ala45Ser
ENST00000366560.3:c.133G>T	ENSP00000355518.3:p.Ala45Ser
ENST00000493477.1:n.246G>T
NM_000143.3:c.133G>T , LRG_504t1:c.133G>T	NP_000134.2:p.Ala45Ser
XM_011544132.1:c.-96G>T	XP_011542434.1:n.-96G>T
XM_011544132.2:c.-96G>T	XP_011542434.1:n.-96G>T
NM_000143.4:c.133G>T MANE Select	NP_000134.2:p.Ala45Ser