Canonical Allele Identifier: CA345441960

Gene: FH

Linked Data

• ClinVar Variation Id: 819805
• ClinVar RCV Id: RCV001012692 ; RCV002549374
• dbSNP Id: rs1433872618
• gnomAD v3: 1-241517282-G-C
• gnomAD v4: 1-241517282-G-C
• MyVariant Identifiers: chr1:g.241680582G>C (hg19) ; chr1:g.241517282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517282G>C , CM000663.2:g.241517282G>C	GRCh38
NC_000001.10:g.241680582G>C , CM000663.1:g.241680582G>C	GRCh37
NC_000001.9:g.239747205G>C	NCBI36
NG_012338.1:g.7473C>G , LRG_504:g.7473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.670C>G
ENST00000682162.1:c.196C>G	ENSP00000508203.1:n.196C>G
ENST00000682567.1:n.244C>G
ENST00000683521.1:c.167C>G	ENSP00000506864.1:p.Thr56Ser
ENST00000684483.1:c.167C>G	ENSP00000507894.1:p.Thr56Ser
ENST00000366560.4:c.167C>G MANE Select	ENSP00000355518.4:p.Thr56Ser
ENST00000366560.3:c.167C>G	ENSP00000355518.3:p.Thr56Ser
ENST00000493477.1:n.280C>G
NM_000143.3:c.167C>G , LRG_504t1:c.167C>G	NP_000134.2:p.Thr56Ser
XM_011544132.1:c.-62C>G	XP_011542434.1:n.-62C>G
XM_011544132.2:c.-62C>G	XP_011542434.1:n.-62C>G
NM_000143.4:c.167C>G MANE Select	NP_000134.2:p.Thr56Ser