Canonical Allele Identifier: CA345441890

Gene: FH

Linked Data

• ClinVar Variation Id: 1326115
• ClinVar RCV Id: RCV001786176
• dbSNP Id: rs1573888488
• MyVariant Identifiers: chr1:g.241680562G>T (hg19) ; chr1:g.241517262G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517262G>T , CM000663.2:g.241517262G>T	GRCh38
NC_000001.10:g.241680562G>T , CM000663.1:g.241680562G>T	GRCh37
NC_000001.9:g.239747185G>T	NCBI36
NG_012338.1:g.7493C>A , LRG_504:g.7493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.690C>A
ENST00000682162.1:c.216C>A	ENSP00000508203.1:n.216C>A
ENST00000682567.1:n.264C>A
ENST00000683521.1:c.187C>A	ENSP00000506864.1:p.Pro63Thr
ENST00000684483.1:c.187C>A	ENSP00000507894.1:p.Pro63Thr
ENST00000366560.4:c.187C>A MANE Select	ENSP00000355518.4:p.Pro63Thr
ENST00000366560.3:c.187C>A	ENSP00000355518.3:p.Pro63Thr
ENST00000493477.1:n.300C>A
NM_000143.3:c.187C>A , LRG_504t1:c.187C>A	NP_000134.2:p.Pro63Thr
XM_011544132.1:c.-42C>A	XP_011542434.1:n.-42C>A
XM_011544132.2:c.-42C>A	XP_011542434.1:n.-42C>A
NM_000143.4:c.187C>A MANE Select	NP_000134.2:p.Pro63Thr