Canonical Allele Identifier: CA1478549

Gene: FH

Linked Data

• ClinVar Variation Id: 712217
• ClinVar RCV Id: RCV001406420
• dbSNP Id: rs201513242
• ExAC: 1:241667332 A / G
• gnomAD v2: 1-241667332-A-G
• gnomAD v4: 1-241504032-A-G
• MyVariant Identifiers: chr1:g.241667332A>G (hg19) ; chr1:g.241504032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504032A>G , CM000663.2:g.241504032A>G	GRCh38
NC_000001.10:g.241667332A>G , CM000663.1:g.241667332A>G	GRCh37
NC_000001.9:g.239733955A>G	NCBI36
NG_012338.1:g.20723T>C , LRG_504:g.20723T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1611+10T>C
ENST00000682162.1:c.1137+10T>C	ENSP00000508203.1:n.1137+10T>C
ENST00000682567.1:n.1195T>C
ENST00000683521.1:c.1108+10T>C	ENSP00000506864.1:n.1108+10T>C
ENST00000684161.1:n.2323+10T>C
ENST00000684483.1:c.*504+10T>C	ENSP00000507894.1:n.*504+10T>C
ENST00000366560.4:c.1108+10T>C MANE Select	ENSP00000355518.4:n.1108+10T>C
ENST00000366560.3:c.1108+10T>C	ENSP00000355518.3:n.1108+10T>C
NM_000143.3:c.1108+10T>C , LRG_504t1:c.1108+10T>C	NP_000134.2:n.1108+10T>C
XM_011544132.1:c.880+10T>C	XP_011542434.1:n.880+10T>C
XM_011544132.2:c.880+10T>C	XP_011542434.1:n.880+10T>C
NM_000143.4:c.1108+10T>C MANE Select	NP_000134.2:n.1108+10T>C