Canonical Allele Identifier: CA16609362

Gene: FH

Linked Data

• ClinVar Variation Id: 393578
• ClinVar RCV Id: RCV000445626
• dbSNP Id: rs1060499643
• MyVariant Identifiers: chr1:g.241665861T>C (hg19) ; chr1:g.241502561T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502561T>C , CM000663.2:g.241502561T>C	GRCh38
NC_000001.10:g.241665861T>C , CM000663.1:g.241665861T>C	GRCh37
NC_000001.9:g.239732484T>C	NCBI36
NG_012338.1:g.22194A>G , LRG_504:g.22194A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1621A>G
ENST00000682162.1:c.1147A>G	ENSP00000508203.1:n.1147A>G
ENST00000682567.1:n.2666A>G
ENST00000683521.1:c.1118A>G	ENSP00000506864.1:p.Asn373Ser
ENST00000684161.1:n.2333A>G
ENST00000684483.1:c.*514A>G	ENSP00000507894.1:n.*514A>G
ENST00000366560.4:c.1118A>G MANE Select	ENSP00000355518.4:p.Asn373Ser
ENST00000366560.3:c.1118A>G	ENSP00000355518.3:p.Asn373Ser
NM_000143.3:c.1118A>G , LRG_504t1:c.1118A>G	NP_000134.2:p.Asn373Ser
XM_011544132.1:c.890A>G	XP_011542434.1:p.Asn297Ser
XM_011544132.2:c.890A>G	XP_011542434.1:p.Asn297Ser
NM_000143.4:c.1118A>G MANE Select	NP_000134.2:p.Asn373Ser