Canonical Allele Identifier: CA257450

Gene: FH

Linked Data

• ClinVar Variation Id: 16230
• ClinVar RCV Id: RCV000017617
• dbSNP Id: rs387906545
• MyVariant Identifiers: chr1:g.241669414C>T (hg19) ; chr1:g.241506114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506114C>T , CM000663.2:g.241506114C>T	GRCh38
NC_000001.10:g.241669414C>T , CM000663.1:g.241669414C>T	GRCh37
NC_000001.9:g.239736037C>T	NCBI36
NG_012338.1:g.18641G>A , LRG_504:g.18641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1296G>A
ENST00000682162.1:c.822G>A	ENSP00000508203.1:n.822G>A
ENST00000682567.1:n.870G>A
ENST00000683521.1:c.793G>A	ENSP00000506864.1:p.Ala265Thr
ENST00000684161.1:n.2008G>A
ENST00000684483.1:c.*189G>A	ENSP00000507894.1:n.*189G>A
ENST00000366560.4:c.793G>A MANE Select	ENSP00000355518.4:p.Ala265Thr
ENST00000366560.3:c.793G>A	ENSP00000355518.3:p.Ala265Thr
NM_000143.3:c.793G>A , LRG_504t1:c.793G>A	NP_000134.2:p.Ala265Thr
XM_011544132.1:c.565G>A	XP_011542434.1:p.Ala189Thr
XM_011544132.2:c.565G>A	XP_011542434.1:p.Ala189Thr
NM_000143.4:c.793G>A MANE Select	NP_000134.2:p.Ala265Thr