Canonical Allele Identifier: CA345437868

Gene: FH

Linked Data

• ClinVar Variation Id: 1037512
• ClinVar RCV Id: RCV002456480 ; RCV002546908
• dbSNP Id: rs1659848371
• MyVariant Identifiers: chr1:g.241667342C>G (hg19) ; chr1:g.241504042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504042C>G , CM000663.2:g.241504042C>G	GRCh38
NC_000001.10:g.241667342C>G , CM000663.1:g.241667342C>G	GRCh37
NC_000001.9:g.239733965C>G	NCBI36
NG_012338.1:g.20713G>C , LRG_504:g.20713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1611G>C
ENST00000682162.1:c.1137G>C	ENSP00000508203.1:n.1137G>C
ENST00000682567.1:n.1185G>C
ENST00000683521.1:c.1108G>C	ENSP00000506864.1:p.Gly370Arg
ENST00000684161.1:n.2323G>C
ENST00000684483.1:c.*504G>C	ENSP00000507894.1:n.*504G>C
ENST00000366560.4:c.1108G>C MANE Select	ENSP00000355518.4:p.Gly370Arg
ENST00000366560.3:c.1108G>C	ENSP00000355518.3:p.Gly370Arg
NM_000143.3:c.1108G>C , LRG_504t1:c.1108G>C	NP_000134.2:p.Gly370Arg
XM_011544132.1:c.880G>C	XP_011542434.1:p.Gly294Arg
XM_011544132.2:c.880G>C	XP_011542434.1:p.Gly294Arg
NM_000143.4:c.1108G>C MANE Select	NP_000134.2:p.Gly370Arg