Canonical Allele Identifier: CA345436898

Gene: FH

Linked Data

• ClinVar Variation Id: 818698
• ClinVar RCV Id: RCV001010544
• dbSNP Id: rs1573878136
• MyVariant Identifiers: chr1:g.241663876T>G (hg19) ; chr1:g.241500576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500576T>G , CM000663.2:g.241500576T>G	GRCh38
NC_000001.10:g.241663876T>G , CM000663.1:g.241663876T>G	GRCh37
NC_000001.9:g.239730499T>G	NCBI36
NG_012338.1:g.24179A>C , LRG_504:g.24179A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1754A>C
ENST00000682162.1:c.1280A>C	ENSP00000508203.1:n.1280A>C
ENST00000682567.1:n.4651A>C
ENST00000683521.1:c.1251A>C	ENSP00000506864.1:p.Leu417Phe
ENST00000684161.1:n.2466A>C
ENST00000684483.1:c.*647A>C	ENSP00000507894.1:n.*647A>C
ENST00000366560.4:c.1251A>C MANE Select	ENSP00000355518.4:p.Leu417Phe
ENST00000366560.3:c.1251A>C	ENSP00000355518.3:p.Leu417Phe
NM_000143.3:c.1251A>C , LRG_504t1:c.1251A>C	NP_000134.2:p.Leu417Phe
XM_011544132.1:c.1023A>C	XP_011542434.1:p.Leu341Phe
XM_011544132.2:c.1023A>C	XP_011542434.1:p.Leu341Phe
NM_000143.4:c.1251A>C MANE Select	NP_000134.2:p.Leu417Phe