Canonical Allele Identifier: CA40338036

Gene: FH

Linked Data

• ClinVar Variation Id: 529819
• ClinVar RCV Id: RCV000635308 ; RCV002325224 ; RCV002509481
• dbSNP Id: rs981562354
• gnomAD v2: 1-241682983-G-A
• gnomAD v3: 1-241519683-G-A
• gnomAD v4: 1-241519683-G-A
• MyVariant Identifiers: chr1:g.241682983G>A (hg19) ; chr1:g.241519683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519683G>A , CM000663.2:g.241519683G>A	GRCh38
NC_000001.10:g.241682983G>A , CM000663.1:g.241682983G>A	GRCh37
NC_000001.9:g.239749606G>A	NCBI36
NG_012338.1:g.5072C>T , LRG_504:g.5072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.12C>T
ENST00000682162.1:c.40C>T	ENSP00000508203.1:p.Leu14Phe
ENST00000682567.1:n.117C>T
ENST00000683521.1:c.40C>T	ENSP00000506864.1:p.Leu14Phe
ENST00000684483.1:c.40C>T	ENSP00000507894.1:p.Leu14Phe
ENST00000366560.4:c.40C>T MANE Select	ENSP00000355518.4:p.Leu14Phe
ENST00000366560.3:c.40C>T	ENSP00000355518.3:p.Leu14Phe
NM_000143.3:c.40C>T , LRG_504t1:c.40C>T	NP_000134.2:p.Leu14Phe
XM_011544132.2:c.-720C>T	XP_011542434.1:n.-720C>T
NM_000143.4:c.40C>T MANE Select	NP_000134.2:p.Leu14Phe