Canonical Allele Identifier: CA1478641

Gene: FH

Linked Data

• ClinVar Variation Id: 405911
• ClinVar RCV Id: RCV000472774 ; RCV001025411 ; RCV001098958 ; RCV002523294 ; RCV003320643
• dbSNP Id: rs11545656
• ExAC: 1:241671986 C / T
• gnomAD v2: 1-241671986-C-T
• gnomAD v3: 1-241508686-C-T
• gnomAD v4: 1-241508686-C-T
• MyVariant Identifiers: chr1:g.241671986C>T (hg19) ; chr1:g.241508686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508686C>T , CM000663.2:g.241508686C>T	GRCh38
NC_000001.10:g.241671986C>T , CM000663.1:g.241671986C>T	GRCh37
NC_000001.9:g.239738609C>T	NCBI36
NG_012338.1:g.16069G>A , LRG_504:g.16069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1158G>A
ENST00000682162.1:c.684G>A	ENSP00000508203.1:n.684G>A
ENST00000682567.1:n.732G>A
ENST00000683521.1:c.655G>A	ENSP00000506864.1:p.Asp219Asn
ENST00000684161.1:n.1870G>A
ENST00000684483.1:c.*51G>A	ENSP00000507894.1:n.*51G>A
ENST00000366560.4:c.655G>A MANE Select	ENSP00000355518.4:p.Asp219Asn
ENST00000366560.3:c.655G>A	ENSP00000355518.3:p.Asp219Asn
NM_000143.3:c.655G>A , LRG_504t1:c.655G>A	NP_000134.2:p.Asp219Asn
XM_011544132.1:c.427G>A	XP_011542434.1:p.Asp143Asn
XM_011544132.2:c.427G>A	XP_011542434.1:p.Asp143Asn
NM_000143.4:c.655G>A MANE Select	NP_000134.2:p.Asp219Asn