Canonical Allele Identifier: CA325181

Gene: FH

Linked Data

• ClinVar Variation Id: 214419
• ClinVar RCV Id: RCV000200592 ; RCV001017278 ; RCV002291591
• dbSNP Id: rs863224004
• gnomAD v4: 1-241504053-C-T
• MyVariant Identifiers: chr1:g.241667353C>T (hg19) ; chr1:g.241504053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504053C>T , CM000663.2:g.241504053C>T	GRCh38
NC_000001.10:g.241667353C>T , CM000663.1:g.241667353C>T	GRCh37
NC_000001.9:g.239733976C>T	NCBI36
NG_012338.1:g.20702G>A , LRG_504:g.20702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1600G>A
ENST00000682162.1:c.1126G>A	ENSP00000508203.1:n.1126G>A
ENST00000682567.1:n.1174G>A
ENST00000683521.1:c.1097G>A	ENSP00000506864.1:p.Ser366Asn
ENST00000684161.1:n.2312G>A
ENST00000684483.1:c.*493G>A	ENSP00000507894.1:n.*493G>A
ENST00000366560.4:c.1097G>A MANE Select	ENSP00000355518.4:p.Ser366Asn
ENST00000366560.3:c.1097G>A	ENSP00000355518.3:p.Ser366Asn
NM_000143.3:c.1097G>A , LRG_504t1:c.1097G>A	NP_000134.2:p.Ser366Asn
XM_011544132.1:c.869G>A	XP_011542434.1:p.Ser290Asn
XM_011544132.2:c.869G>A	XP_011542434.1:p.Ser290Asn
NM_000143.4:c.1097G>A MANE Select	NP_000134.2:p.Ser366Asn