Canonical Allele Identifier: CA913410873

Gene: FH

Linked Data

• ClinVar Variation Id: 2115574
• ClinVar RCV Id: RCV003046527 ; RCV003170906
• gnomAD v2: 1-241665874-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502574C>G , CM000663.2:g.241502574C>G	GRCh38
NC_000001.10:g.241665874C>G , CM000663.1:g.241665874C>G	GRCh37
NC_000001.9:g.239732497C>G	NCBI36
NG_012338.1:g.22181G>C , LRG_504:g.22181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1612-4G>C
ENST00000682162.1:c.1138-4G>C	ENSP00000508203.1:n.1138-4G>C
ENST00000682567.1:n.2653G>C
ENST00000683521.1:c.1109-4G>C	ENSP00000506864.1:n.1109-4G>C
ENST00000684161.1:n.2324-4G>C
ENST00000684483.1:c.*505-4G>C	ENSP00000507894.1:n.*505-4G>C
ENST00000366560.4:c.1109-4G>C MANE Select	ENSP00000355518.4:n.1109-4G>C
ENST00000366560.3:c.1109-4G>C	ENSP00000355518.3:n.1109-4G>C
NM_000143.3:c.1109-4G>C , LRG_504t1:c.1109-4G>C	NP_000134.2:n.1109-4G>C
XM_011544132.1:c.881-4G>C	XP_011542434.1:n.881-4G>C
XM_011544132.2:c.881-4G>C	XP_011542434.1:n.881-4G>C
NM_000143.4:c.1109-4G>C MANE Select	NP_000134.2:n.1109-4G>C