Canonical Allele Identifier: CA345438429

Gene: FH

Linked Data

• ClinVar Variation Id: 1413368
• ClinVar RCV Id: RCV002556354 ; RCV003339818 ; RCV003464232
• dbSNP Id: rs1659857850
• gnomAD v3: 1-241504241-C-G
• gnomAD v4: 1-241504241-C-G
• MyVariant Identifiers: chr1:g.241667541C>G (hg19) ; chr1:g.241504241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504241C>G , CM000663.2:g.241504241C>G	GRCh38
NC_000001.10:g.241667541C>G , CM000663.1:g.241667541C>G	GRCh37
NC_000001.9:g.239734164C>G	NCBI36
NG_012338.1:g.20514G>C , LRG_504:g.20514G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1412G>C
ENST00000682162.1:c.938G>C	ENSP00000508203.1:n.938G>C
ENST00000682567.1:n.986G>C
ENST00000683521.1:c.909G>C	ENSP00000506864.1:p.Leu303Phe
ENST00000684161.1:n.2124G>C
ENST00000684483.1:c.*305G>C	ENSP00000507894.1:n.*305G>C
ENST00000366560.4:c.909G>C MANE Select	ENSP00000355518.4:p.Leu303Phe
ENST00000366560.3:c.909G>C	ENSP00000355518.3:p.Leu303Phe
NM_000143.3:c.909G>C , LRG_504t1:c.909G>C	NP_000134.2:p.Leu303Phe
XM_011544132.1:c.681G>C	XP_011542434.1:p.Leu227Phe
XM_011544132.2:c.681G>C	XP_011542434.1:p.Leu227Phe
NM_000143.4:c.909G>C MANE Select	NP_000134.2:p.Leu303Phe