Canonical Allele Identifier: CA345437446

Gene: FH

Linked Data

• ClinVar Variation Id: 864859
• ClinVar RCV Id: RCV003128750 ; RCV001072142
• dbSNP Id: rs1178007598
• gnomAD v4: 1-241502510-T-C
• MyVariant Identifiers: chr1:g.241665810T>C (hg19) ; chr1:g.241502510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502510T>C , CM000663.2:g.241502510T>C	GRCh38
NC_000001.10:g.241665810T>C , CM000663.1:g.241665810T>C	GRCh37
NC_000001.9:g.239732433T>C	NCBI36
NG_012338.1:g.22245A>G , LRG_504:g.22245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1672A>G
ENST00000682162.1:c.1198A>G	ENSP00000508203.1:n.1198A>G
ENST00000682567.1:n.2717A>G
ENST00000683521.1:c.1169A>G	ENSP00000506864.1:p.Asn390Ser
ENST00000684161.1:n.2384A>G
ENST00000684483.1:c.*565A>G	ENSP00000507894.1:n.*565A>G
ENST00000366560.4:c.1169A>G MANE Select	ENSP00000355518.4:p.Asn390Ser
ENST00000366560.3:c.1169A>G	ENSP00000355518.3:p.Asn390Ser
NM_000143.3:c.1169A>G , LRG_504t1:c.1169A>G	NP_000134.2:p.Asn390Ser
XM_011544132.1:c.941A>G	XP_011542434.1:p.Asn314Ser
XM_011544132.2:c.941A>G	XP_011542434.1:p.Asn314Ser
NM_000143.4:c.1169A>G MANE Select	NP_000134.2:p.Asn390Ser