Canonical Allele Identifier: CA345441974

Gene: FH

Linked Data

• ClinVar Variation Id: 945438
• ClinVar RCV Id: RCV001216082
• dbSNP Id: rs1660245455
• COSMIC: COSM4764914
• MyVariant Identifiers: chr1:g.241680586C>T (hg19) ; chr1:g.241517286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517286C>T , CM000663.2:g.241517286C>T	GRCh38
NC_000001.10:g.241680586C>T , CM000663.1:g.241680586C>T	GRCh37
NC_000001.9:g.239747209C>T	NCBI36
NG_012338.1:g.7469G>A , LRG_504:g.7469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.666G>A
ENST00000682162.1:c.192G>A	ENSP00000508203.1:n.192G>A
ENST00000682567.1:n.240G>A
ENST00000683521.1:c.163G>A	ENSP00000506864.1:p.Asp55Asn
ENST00000684483.1:c.163G>A	ENSP00000507894.1:p.Asp55Asn
ENST00000366560.4:c.163G>A MANE Select	ENSP00000355518.4:p.Asp55Asn
ENST00000366560.3:c.163G>A	ENSP00000355518.3:p.Asp55Asn
ENST00000493477.1:n.276G>A
NM_000143.3:c.163G>A , LRG_504t1:c.163G>A	NP_000134.2:p.Asp55Asn
XM_011544132.1:c.-66G>A	XP_011542434.1:n.-66G>A
XM_011544132.2:c.-66G>A	XP_011542434.1:n.-66G>A
NM_000143.4:c.163G>A MANE Select	NP_000134.2:p.Asp55Asn