Canonical Allele Identifier: CA169030

Gene: FH

Linked Data

• ClinVar Variation Id: 142654
• ClinVar RCV Id: RCV000131997 ; RCV001029752 ; RCV002514749
• dbSNP Id: rs587782618
• gnomAD v2: 1-241672084-C-T
• gnomAD v4: 1-241508784-C-T
• MyVariant Identifiers: chr1:g.241672084C>T (hg19) ; chr1:g.241508784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508784C>T , CM000663.2:g.241508784C>T	GRCh38
NC_000001.10:g.241672084C>T , CM000663.1:g.241672084C>T	GRCh37
NC_000001.9:g.239738707C>T	NCBI36
NG_012338.1:g.15971G>A , LRG_504:g.15971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1060G>A
ENST00000682162.1:c.586G>A	ENSP00000508203.1:n.586G>A
ENST00000682567.1:n.634G>A
ENST00000683521.1:c.557G>A	ENSP00000506864.1:p.Ser186Asn
ENST00000684161.1:n.1772G>A
ENST00000684483.1:c.556-24G>A	ENSP00000507894.1:n.556-24G>A
ENST00000366560.4:c.557G>A MANE Select	ENSP00000355518.4:p.Ser186Asn
ENST00000366560.3:c.557G>A	ENSP00000355518.3:p.Ser186Asn
NM_000143.3:c.557G>A , LRG_504t1:c.557G>A	NP_000134.2:p.Ser186Asn
XM_011544132.1:c.329G>A	XP_011542434.1:p.Ser110Asn
XM_011544132.2:c.329G>A	XP_011542434.1:p.Ser110Asn
NM_000143.4:c.557G>A MANE Select	NP_000134.2:p.Ser186Asn