Canonical Allele Identifier: CA345437420

Gene: FH

Linked Data

• dbSNP Id: rs2147914914
• MyVariant Identifiers: chr1:g.241665804A>T (hg19) ; chr1:g.241502504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502504A>T , CM000663.2:g.241502504A>T	GRCh38
NC_000001.10:g.241665804A>T , CM000663.1:g.241665804A>T	GRCh37
NC_000001.9:g.239732427A>T	NCBI36
NG_012338.1:g.22251T>A , LRG_504:g.22251T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1678T>A
ENST00000682162.1:c.1204T>A	ENSP00000508203.1:n.1204T>A
ENST00000682567.1:n.2723T>A
ENST00000683521.1:c.1175T>A	ENSP00000506864.1:p.Val392Asp
ENST00000684161.1:n.2390T>A
ENST00000684483.1:c.*571T>A	ENSP00000507894.1:n.*571T>A
ENST00000366560.4:c.1175T>A MANE Select	ENSP00000355518.4:p.Val392Asp
ENST00000366560.3:c.1175T>A	ENSP00000355518.3:p.Val392Asp
NM_000143.3:c.1175T>A , LRG_504t1:c.1175T>A	NP_000134.2:p.Val392Asp
XM_011544132.1:c.947T>A	XP_011542434.1:p.Val316Asp
XM_011544132.2:c.947T>A	XP_011542434.1:p.Val316Asp
NM_000143.4:c.1175T>A MANE Select	NP_000134.2:p.Val392Asp