Canonical Allele Identifier: CA345438358

Gene: FH

Linked Data

• ClinVar Variation Id: 666168
• ClinVar RCV Id: RCV002536030
• dbSNP Id: rs1573880531
• MyVariant Identifiers: chr1:g.241667506A>G (hg19) ; chr1:g.241504206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504206A>G , CM000663.2:g.241504206A>G	GRCh38
NC_000001.10:g.241667506A>G , CM000663.1:g.241667506A>G	GRCh37
NC_000001.9:g.239734129A>G	NCBI36
NG_012338.1:g.20549T>C , LRG_504:g.20549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1447T>C
ENST00000682162.1:c.973T>C	ENSP00000508203.1:n.973T>C
ENST00000682567.1:n.1021T>C
ENST00000683521.1:c.944T>C	ENSP00000506864.1:p.Leu315Pro
ENST00000684161.1:n.2159T>C
ENST00000684483.1:c.*340T>C	ENSP00000507894.1:n.*340T>C
ENST00000366560.4:c.944T>C MANE Select	ENSP00000355518.4:p.Leu315Pro
ENST00000366560.3:c.944T>C	ENSP00000355518.3:p.Leu315Pro
NM_000143.3:c.944T>C , LRG_504t1:c.944T>C	NP_000134.2:p.Leu315Pro
XM_011544132.1:c.716T>C	XP_011542434.1:p.Leu239Pro
XM_011544132.2:c.716T>C	XP_011542434.1:p.Leu239Pro
NM_000143.4:c.944T>C MANE Select	NP_000134.2:p.Leu315Pro