Canonical Allele Identifier: CA345439138

Gene: FH

Linked Data

• ClinVar Variation Id: 2117436
• ClinVar RCV Id: RCV003027744
• MyVariant Identifiers: chr1:g.241671902C>A (hg19) ; chr1:g.241508602C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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