Canonical Allele Identifier: CA345441851

Gene: FH

Linked Data

• ClinVar Variation Id: 2587068
• ClinVar RCV Id: RCV003339137
• MyVariant Identifiers: chr1:g.241680549T>C (hg19) ; chr1:g.241517249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517249T>C , CM000663.2:g.241517249T>C	GRCh38
NC_000001.10:g.241680549T>C , CM000663.1:g.241680549T>C	GRCh37
NC_000001.9:g.239747172T>C	NCBI36
NG_012338.1:g.7506A>G , LRG_504:g.7506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.703A>G
ENST00000682162.1:c.229A>G	ENSP00000508203.1:n.229A>G
ENST00000682567.1:n.277A>G
ENST00000683521.1:c.200A>G	ENSP00000506864.1:p.Tyr67Cys
ENST00000684483.1:c.200A>G	ENSP00000507894.1:p.Tyr67Cys
ENST00000366560.4:c.200A>G MANE Select	ENSP00000355518.4:p.Tyr67Cys
ENST00000366560.3:c.200A>G	ENSP00000355518.3:p.Tyr67Cys
ENST00000493477.1:n.313A>G
NM_000143.3:c.200A>G , LRG_504t1:c.200A>G	NP_000134.2:p.Tyr67Cys
XM_011544132.1:c.-29A>G	XP_011542434.1:n.-29A>G
XM_011544132.2:c.-29A>G	XP_011542434.1:n.-29A>G
NM_000143.4:c.200A>G MANE Select	NP_000134.2:p.Tyr67Cys