Canonical Allele Identifier: CA345436855

Gene: FH

Linked Data

• ClinVar Variation Id: 856632
• ClinVar RCV Id: RCV003103915
• dbSNP Id: rs1659747962
• gnomAD v4: 1-241500565-C-G
• MyVariant Identifiers: chr1:g.241663865C>G (hg19) ; chr1:g.241500565C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500565C>G , CM000663.2:g.241500565C>G	GRCh38
NC_000001.10:g.241663865C>G , CM000663.1:g.241663865C>G	GRCh37
NC_000001.9:g.239730488C>G	NCBI36
NG_012338.1:g.24190G>C , LRG_504:g.24190G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1765G>C
ENST00000682162.1:c.1291G>C	ENSP00000508203.1:n.1291G>C
ENST00000682567.1:n.4662G>C
ENST00000683521.1:c.1262G>C	ENSP00000506864.1:p.Arg421Thr
ENST00000684161.1:n.2477G>C
ENST00000684483.1:c.*658G>C	ENSP00000507894.1:n.*658G>C
ENST00000366560.4:c.1262G>C MANE Select	ENSP00000355518.4:p.Arg421Thr
ENST00000366560.3:c.1262G>C	ENSP00000355518.3:p.Arg421Thr
NM_000143.3:c.1262G>C , LRG_504t1:c.1262G>C	NP_000134.2:p.Arg421Thr
XM_011544132.1:c.1034G>C	XP_011542434.1:p.Arg345Thr
XM_011544132.2:c.1034G>C	XP_011542434.1:p.Arg345Thr
NM_000143.4:c.1262G>C MANE Select	NP_000134.2:p.Arg421Thr