Canonical Allele Identifier: CA220384

Gene: FH

Linked Data

• ClinVar Variation Id: 92456
• ClinVar RCV Id: RCV000078150 ; RCV000445585 ; RCV001024322
• dbSNP Id: rs398123166
• ExAC: 1:241672081 G / C
• gnomAD v2: 1-241672081-G-C
• gnomAD v3: 1-241508781-G-C
• gnomAD v4: 1-241508781-G-C
• MyVariant Identifiers: chr1:g.241672081G>C (hg19) ; chr1:g.241508781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508781G>C , CM000663.2:g.241508781G>C	GRCh38
NC_000001.10:g.241672081G>C , CM000663.1:g.241672081G>C	GRCh37
NC_000001.9:g.239738704G>C	NCBI36
NG_012338.1:g.15974C>G , LRG_504:g.15974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1063C>G
ENST00000682162.1:c.589C>G	ENSP00000508203.1:n.589C>G
ENST00000682567.1:n.637C>G
ENST00000683521.1:c.560C>G	ENSP00000506864.1:p.Ser187Ter
ENST00000684161.1:n.1775C>G
ENST00000684483.1:c.556-21C>G	ENSP00000507894.1:n.556-21C>G
ENST00000366560.4:c.560C>G MANE Select	ENSP00000355518.4:p.Ser187Ter
ENST00000366560.3:c.560C>G	ENSP00000355518.3:p.Ser187Ter
NM_000143.3:c.560C>G , LRG_504t1:c.560C>G	NP_000134.2:p.Ser187Ter
XM_011544132.1:c.332C>G	XP_011542434.1:p.Ser111Ter
XM_011544132.2:c.332C>G	XP_011542434.1:p.Ser111Ter
NM_000143.4:c.560C>G MANE Select	NP_000134.2:p.Ser187Ter