Canonical Allele Identifier: CA1229578765

Gene: FH

Linked Data

• dbSNP Id: rs1659847659
• gnomAD v4: 1-241504010-T-TACA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504010_241504011insACA , CM000663.2:g.241504010_241504011insACA	GRCh38
NC_000001.10:g.241667310_241667311insACA , CM000663.1:g.241667310_241667311insACA	GRCh37
NC_000001.9:g.239733933_239733934insACA	NCBI36
NG_012338.1:g.20744_20745insTGT , LRG_504:g.20744_20745insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1611+31_1611+32insTGT
ENST00000682162.1:c.1137+31_1137+32insTGT	ENSP00000508203.1:n.1137+31_1137+32insTGT
ENST00000682567.1:n.1216_1217insTGT
ENST00000683521.1:c.1108+31_1108+32insTGT	ENSP00000506864.1:n.1108+31_1108+32insTGT
ENST00000684161.1:n.2323+31_2323+32insTGT
ENST00000684483.1:c.*504+31_*504+32insTGT	ENSP00000507894.1:n.*504+31_*504+32insTGT
ENST00000366560.4:c.1108+31_1108+32insTGT MANE Select	ENSP00000355518.4:n.1108+31_1108+32insTGT
ENST00000366560.3:c.1108+31_1108+32insTGT	ENSP00000355518.3:n.1108+31_1108+32insTGT
NM_000143.3:c.1108+31_1108+32insTGT , LRG_504t1:c.1108+31_1108+32insTGT	NP_000134.2:n.1108+31_1108+32insTGT
XM_011544132.1:c.880+31_880+32insTGT	XP_011542434.1:n.880+31_880+32insTGT
XM_011544132.2:c.880+31_880+32insTGT	XP_011542434.1:n.880+31_880+32insTGT
NM_000143.4:c.1108+31_1108+32insTGT MANE Select	NP_000134.2:n.1108+31_1108+32insTGT