Canonical Allele Identifier: CA16617112

Gene: FH

Linked Data

• ClinVar Variation Id: 423941
• ClinVar RCV Id: RCV000485484 ; RCV003168979 ; RCV003464036
• dbSNP Id: rs1064796708
• MyVariant Identifiers: chr1:g.241661216A>C (hg19) ; chr1:g.241497916A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497916A>C , CM000663.2:g.241497916A>C	GRCh38
NC_000001.10:g.241661216A>C , CM000663.1:g.241661216A>C	GRCh37
NC_000001.9:g.239727839A>C	NCBI36
NG_012338.1:g.26839T>G , LRG_504:g.26839T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1948T>G
ENST00000682162.1:c.1474T>G	ENSP00000508203.1:n.1474T>G
ENST00000682567.1:n.4845T>G
ENST00000684161.1:n.2660T>G
ENST00000684483.1:c.*841T>G	ENSP00000507894.1:n.*841T>G
ENST00000366560.4:c.1445T>G MANE Select	ENSP00000355518.4:p.Leu482Ter
ENST00000366560.3:c.1445T>G	ENSP00000355518.3:p.Leu482Ter
NM_000143.3:c.1445T>G , LRG_504t1:c.1445T>G	NP_000134.2:p.Leu482Ter
XM_011544132.1:c.1217T>G	XP_011542434.1:p.Leu406Ter
XM_011544132.2:c.1217T>G	XP_011542434.1:p.Leu406Ter
NM_000143.4:c.1445T>G MANE Select	NP_000134.2:p.Leu482Ter