Canonical Allele Identifier: CA345439158

Gene: FH

Linked Data

• ClinVar Variation Id: 1703380
• ClinVar RCV Id: RCV002280502 ; RCV002382500
• dbSNP Id: rs1659989125
• gnomAD v4: 1-241508611-G-A
• MyVariant Identifiers: chr1:g.241671911G>A (hg19) ; chr1:g.241508611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508611G>A , CM000663.2:g.241508611G>A	GRCh38
NC_000001.10:g.241671911G>A , CM000663.1:g.241671911G>A	GRCh37
NC_000001.9:g.239738534G>A	NCBI36
NG_012338.1:g.16144C>T , LRG_504:g.16144C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1233C>T
ENST00000682162.1:c.759C>T	ENSP00000508203.1:n.759C>T
ENST00000682567.1:n.807C>T
ENST00000683521.1:c.730C>T	ENSP00000506864.1:p.Leu244Phe
ENST00000684161.1:n.1945C>T
ENST00000684483.1:c.*126C>T	ENSP00000507894.1:n.*126C>T
ENST00000366560.4:c.730C>T MANE Select	ENSP00000355518.4:p.Leu244Phe
ENST00000366560.3:c.730C>T	ENSP00000355518.3:p.Leu244Phe
NM_000143.3:c.730C>T , LRG_504t1:c.730C>T	NP_000134.2:p.Leu244Phe
XM_011544132.1:c.502C>T	XP_011542434.1:p.Leu168Phe
XM_011544132.2:c.502C>T	XP_011542434.1:p.Leu168Phe
NM_000143.4:c.730C>T MANE Select	NP_000134.2:p.Leu244Phe