Canonical Allele Identifier: CA345440152

Gene: FH

Linked Data

• ClinVar Variation Id: 2587052
• ClinVar RCV Id: RCV003341988
• dbSNP Id: rs200343823
• MyVariant Identifiers: chr1:g.241675407C>A (hg19) ; chr1:g.241512107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512107C>A , CM000663.2:g.241512107C>A	GRCh38
NC_000001.10:g.241675407C>A , CM000663.1:g.241675407C>A	GRCh37
NC_000001.9:g.239742030C>A	NCBI36
NG_012338.1:g.12648G>T , LRG_504:g.12648G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.918G>T
ENST00000682162.1:c.444G>T	ENSP00000508203.1:n.444G>T
ENST00000682567.1:n.492G>T
ENST00000683521.1:c.415G>T	ENSP00000506864.1:p.Val139Leu
ENST00000684483.1:c.415G>T	ENSP00000507894.1:p.Val139Leu
ENST00000366560.4:c.415G>T MANE Select	ENSP00000355518.4:p.Val139Leu
ENST00000366560.3:c.415G>T	ENSP00000355518.3:p.Val139Leu
ENST00000497042.1:n.111G>T
NM_000143.3:c.415G>T , LRG_504t1:c.415G>T	NP_000134.2:p.Val139Leu
XM_011544132.1:c.187G>T	XP_011542434.1:p.Val63Leu
XM_011544132.2:c.187G>T	XP_011542434.1:p.Val63Leu
NM_000143.4:c.415G>T MANE Select	NP_000134.2:p.Val139Leu