Canonical Allele Identifier: CA1478529

Gene: FH

Linked Data

• ClinVar Variation Id: 797241
• ClinVar RCV Id: RCV003169507 ; RCV003656657
• dbSNP Id: rs752558644
• ExAC: 1:241665767 C / T
• gnomAD v2: 1-241665767-C-T
• gnomAD v4: 1-241502467-C-T
• MyVariant Identifiers: chr1:g.241665767C>T (hg19) ; chr1:g.241502467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502467C>T , CM000663.2:g.241502467C>T	GRCh38
NC_000001.10:g.241665767C>T , CM000663.1:g.241665767C>T	GRCh37
NC_000001.9:g.239732390C>T	NCBI36
NG_012338.1:g.22288G>A , LRG_504:g.22288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1715G>A
ENST00000682162.1:c.1241G>A	ENSP00000508203.1:n.1241G>A
ENST00000682567.1:n.2760G>A
ENST00000683521.1:c.1212G>A	ENSP00000506864.1:p.Glu404=
ENST00000684161.1:n.2427G>A
ENST00000684483.1:c.*608G>A	ENSP00000507894.1:n.*608G>A
ENST00000366560.4:c.1212G>A MANE Select	ENSP00000355518.4:p.Glu404=
ENST00000366560.3:c.1212G>A	ENSP00000355518.3:p.Glu404=
NM_000143.3:c.1212G>A , LRG_504t1:c.1212G>A	NP_000134.2:p.Glu404=
XM_011544132.1:c.984G>A	XP_011542434.1:p.Glu328=
XM_011544132.2:c.984G>A	XP_011542434.1:p.Glu328=
NM_000143.4:c.1212G>A MANE Select	NP_000134.2:p.Glu404=