Canonical Allele Identifier: CA40327539

Gene: FH

Linked Data

• ClinVar Variation Id: 1310008
• ClinVar RCV Id: RCV001757076 ; RCV004040199
• dbSNP Id: rs376502356
• gnomAD v4: 1-241500480-C-T
• MyVariant Identifiers: chr1:g.241663780C>T (hg19) ; chr1:g.241500480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500480C>T , CM000663.2:g.241500480C>T	GRCh38
NC_000001.10:g.241663780C>T , CM000663.1:g.241663780C>T	GRCh37
NC_000001.9:g.239730403C>T	NCBI36
NG_012338.1:g.24275G>A , LRG_504:g.24275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1850G>A
ENST00000682162.1:c.1376G>A	ENSP00000508203.1:n.1376G>A
ENST00000682567.1:n.4747G>A
ENST00000683521.1:c.1347G>A	ENSP00000506864.1:p.Met449Ile
ENST00000684161.1:n.2562G>A
ENST00000684483.1:c.*743G>A	ENSP00000507894.1:n.*743G>A
ENST00000366560.4:c.1347G>A MANE Select	ENSP00000355518.4:p.Met449Ile
ENST00000366560.3:c.1347G>A	ENSP00000355518.3:p.Met449Ile
NM_000143.3:c.1347G>A , LRG_504t1:c.1347G>A	NP_000134.2:p.Met449Ile
XM_011544132.1:c.1119G>A	XP_011542434.1:p.Met373Ile
XM_011544132.2:c.1119G>A	XP_011542434.1:p.Met373Ile
NM_000143.4:c.1347G>A MANE Select	NP_000134.2:p.Met449Ile