Canonical Allele Identifier: CA16610049

Gene: FH

Linked Data

• ClinVar Variation Id: 405912
• ClinVar RCV Id: RCV001782931 ; RCV002402239
• dbSNP Id: rs1060500896
• COSMIC: COSM679716
• MyVariant Identifiers: chr1:g.241667398G>T (hg19) ; chr1:g.241504098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504098G>T , CM000663.2:g.241504098G>T	GRCh38
NC_000001.10:g.241667398G>T , CM000663.1:g.241667398G>T	GRCh37
NC_000001.9:g.239734021G>T	NCBI36
NG_012338.1:g.20657C>A , LRG_504:g.20657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1555C>A
ENST00000682162.1:c.1081C>A	ENSP00000508203.1:n.1081C>A
ENST00000682567.1:n.1129C>A
ENST00000683521.1:c.1052C>A	ENSP00000506864.1:p.Ser351Ter
ENST00000684161.1:n.2267C>A
ENST00000684483.1:c.*448C>A	ENSP00000507894.1:n.*448C>A
ENST00000366560.4:c.1052C>A MANE Select	ENSP00000355518.4:p.Ser351Ter
ENST00000366560.3:c.1052C>A	ENSP00000355518.3:p.Ser351Ter
NM_000143.3:c.1052C>A , LRG_504t1:c.1052C>A	NP_000134.2:p.Ser351Ter
XM_011544132.1:c.824C>A	XP_011542434.1:p.Ser275Ter
XM_011544132.2:c.824C>A	XP_011542434.1:p.Ser275Ter
NM_000143.4:c.1052C>A MANE Select	NP_000134.2:p.Ser351Ter