Canonical Allele Identifier: CA345439814

Gene: FH

Linked Data

• ClinVar Variation Id: 449388
• ClinVar RCV Id: RCV000522660 ; RCV003464109
• dbSNP Id: rs1375252870
• MyVariant Identifiers: chr1:g.241675266C>T (hg19) ; chr1:g.241511966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511966C>T , CM000663.2:g.241511966C>T	GRCh38
NC_000001.10:g.241675266C>T , CM000663.1:g.241675266C>T	GRCh37
NC_000001.9:g.239741889C>T	NCBI36
NG_012338.1:g.12789G>A , LRG_504:g.12789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+1G>A
ENST00000682162.1:c.584+1G>A	ENSP00000508203.1:n.584+1G>A
ENST00000682567.1:n.632+1G>A
ENST00000683521.1:c.555+1G>A	ENSP00000506864.1:n.555+1G>A
ENST00000684483.1:c.555+1G>A	ENSP00000507894.1:n.555+1G>A
ENST00000366560.4:c.555+1G>A MANE Select	ENSP00000355518.4:n.555+1G>A
ENST00000366560.3:c.555+1G>A	ENSP00000355518.3:n.555+1G>A
ENST00000497042.1:n.252G>A
NM_000143.3:c.555+1G>A , LRG_504t1:c.555+1G>A	NP_000134.2:n.555+1G>A
XM_011544132.1:c.327+1G>A	XP_011542434.1:n.327+1G>A
XM_011544132.2:c.327+1G>A	XP_011542434.1:n.327+1G>A
NM_000143.4:c.555+1G>A MANE Select	NP_000134.2:n.555+1G>A