Canonical Allele Identifier: CA345439140

Gene: FH

Linked Data

• ClinVar Variation Id: 960893
• ClinVar RCV Id: RCV002563813 ; RCV003336355 ; RCV003339546
• dbSNP Id: rs1659988368
• gnomAD v4: 1-241508602-C-T
• MyVariant Identifiers: chr1:g.241671902C>T (hg19) ; chr1:g.241508602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508602C>T , CM000663.2:g.241508602C>T	GRCh38
NC_000001.10:g.241671902C>T , CM000663.1:g.241671902C>T	GRCh37
NC_000001.9:g.239738525C>T	NCBI36
NG_012338.1:g.16153G>A , LRG_504:g.16153G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1241+1G>A
ENST00000682162.1:c.767+1G>A	ENSP00000508203.1:n.767+1G>A
ENST00000682567.1:n.815+1G>A
ENST00000683521.1:c.738+1G>A	ENSP00000506864.1:n.738+1G>A
ENST00000684161.1:n.1953+1G>A
ENST00000684483.1:c.*134+1G>A	ENSP00000507894.1:n.*134+1G>A
ENST00000366560.4:c.738+1G>A MANE Select	ENSP00000355518.4:n.738+1G>A
ENST00000366560.3:c.738+1G>A	ENSP00000355518.3:n.738+1G>A
NM_000143.3:c.738+1G>A , LRG_504t1:c.738+1G>A	NP_000134.2:n.738+1G>A
XM_011544132.1:c.510+1G>A	XP_011542434.1:n.510+1G>A
XM_011544132.2:c.510+1G>A	XP_011542434.1:n.510+1G>A
NM_000143.4:c.738+1G>A MANE Select	NP_000134.2:n.738+1G>A