Canonical Allele Identifier: CA345439320

Gene: FH

Linked Data

• ClinVar Variation Id: 460370
• ClinVar RCV Id: RCV000531582 ; RCV002527734 ; RCV003302803
• dbSNP Id: rs1553341348
• gnomAD v4: 1-241508694-T-A
• MyVariant Identifiers: chr1:g.241671994T>A (hg19) ; chr1:g.241508694T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508694T>A , CM000663.2:g.241508694T>A	GRCh38
NC_000001.10:g.241671994T>A , CM000663.1:g.241671994T>A	GRCh37
NC_000001.9:g.239738617T>A	NCBI36
NG_012338.1:g.16061A>T , LRG_504:g.16061A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1150A>T
ENST00000682162.1:c.676A>T	ENSP00000508203.1:n.676A>T
ENST00000682567.1:n.724A>T
ENST00000683521.1:c.647A>T	ENSP00000506864.1:p.Asp216Val
ENST00000684161.1:n.1862A>T
ENST00000684483.1:c.*43A>T	ENSP00000507894.1:n.*43A>T
ENST00000366560.4:c.647A>T MANE Select	ENSP00000355518.4:p.Asp216Val
ENST00000366560.3:c.647A>T	ENSP00000355518.3:p.Asp216Val
NM_000143.3:c.647A>T , LRG_504t1:c.647A>T	NP_000134.2:p.Asp216Val
XM_011544132.1:c.419A>T	XP_011542434.1:p.Asp140Val
XM_011544132.2:c.419A>T	XP_011542434.1:p.Asp140Val
NM_000143.4:c.647A>T MANE Select	NP_000134.2:p.Asp216Val