Canonical Allele Identifier: CA345438432

Gene: FH

Linked Data

• ClinVar Variation Id: 1765710
• ClinVar RCV Id: RCV002449976
• MyVariant Identifiers: chr1:g.241667543A>T (hg19) ; chr1:g.241504243A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504243A>T , CM000663.2:g.241504243A>T	GRCh38
NC_000001.10:g.241667543A>T , CM000663.1:g.241667543A>T	GRCh37
NC_000001.9:g.239734166A>T	NCBI36
NG_012338.1:g.20512T>A , LRG_504:g.20512T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1410T>A
ENST00000682162.1:c.936T>A	ENSP00000508203.1:n.936T>A
ENST00000682567.1:n.984T>A
ENST00000683521.1:c.907T>A	ENSP00000506864.1:p.Leu303Met
ENST00000684161.1:n.2122T>A
ENST00000684483.1:c.*303T>A	ENSP00000507894.1:n.*303T>A
ENST00000366560.4:c.907T>A MANE Select	ENSP00000355518.4:p.Leu303Met
ENST00000366560.3:c.907T>A	ENSP00000355518.3:p.Leu303Met
NM_000143.3:c.907T>A , LRG_504t1:c.907T>A	NP_000134.2:p.Leu303Met
XM_011544132.1:c.679T>A	XP_011542434.1:p.Leu227Met
XM_011544132.2:c.679T>A	XP_011542434.1:p.Leu227Met
NM_000143.4:c.907T>A MANE Select	NP_000134.2:p.Leu303Met