Canonical Allele Identifier: CA16610053

Gene: FH

Linked Data

• ClinVar Variation Id: 405923
• ClinVar RCV Id: RCV002274031
• dbSNP Id: rs11545655
• MyVariant Identifiers: chr1:g.241667429C>T (hg19) ; chr1:g.241504129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504129C>T , CM000663.2:g.241504129C>T	GRCh38
NC_000001.10:g.241667429C>T , CM000663.1:g.241667429C>T	GRCh37
NC_000001.9:g.239734052C>T	NCBI36
NG_012338.1:g.20626G>A , LRG_504:g.20626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1524G>A
ENST00000682162.1:c.1050G>A	ENSP00000508203.1:n.1050G>A
ENST00000682567.1:n.1098G>A
ENST00000683521.1:c.1021G>A	ENSP00000506864.1:p.Asp341Asn
ENST00000684161.1:n.2236G>A
ENST00000684483.1:c.*417G>A	ENSP00000507894.1:n.*417G>A
ENST00000366560.4:c.1021G>A MANE Select	ENSP00000355518.4:p.Asp341Asn
ENST00000366560.3:c.1021G>A	ENSP00000355518.3:p.Asp341Asn
NM_000143.3:c.1021G>A , LRG_504t1:c.1021G>A	NP_000134.2:p.Asp341Asn
XM_011544132.1:c.793G>A	XP_011542434.1:p.Asp265Asn
XM_011544132.2:c.793G>A	XP_011542434.1:p.Asp265Asn
NM_000143.4:c.1021G>A MANE Select	NP_000134.2:p.Asp341Asn