Canonical Allele Identifier: CA733680155

Gene: FH

Linked Data

• dbSNP Id: rs1277504135
• gnomAD v4: 1-241504005-AAG-A
• MyVariant Identifiers: chr1:g.241667306_241667307del (hg19) ; chr1:g.241504006_241504007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504006_241504007del , CM000663.2:g.241504006_241504007del	GRCh38
NC_000001.10:g.241667306_241667307del , CM000663.1:g.241667306_241667307del	GRCh37
NC_000001.9:g.239733929_239733930del	NCBI36
NG_012338.1:g.20748_20749del , LRG_504:g.20748_20749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1611+35_1611+36del
ENST00000682162.1:c.1137+35_1137+36del	ENSP00000508203.1:n.1137+35_1137+36del
ENST00000682567.1:n.1220_1221del
ENST00000683521.1:c.1108+35_1108+36del	ENSP00000506864.1:n.1108+35_1108+36del
ENST00000684161.1:n.2323+35_2323+36del
ENST00000684483.1:c.*504+35_*504+36del	ENSP00000507894.1:n.*504+35_*504+36del
ENST00000366560.4:c.1108+35_1108+36del MANE Select	ENSP00000355518.4:n.1108+35_1108+36del
ENST00000366560.3:c.1108+35_1108+36del	ENSP00000355518.3:n.1108+35_1108+36del
NM_000143.3:c.1108+35_1108+36del , LRG_504t1:c.1108+35_1108+36del	NP_000134.2:n.1108+35_1108+36del
XM_011544132.1:c.880+35_880+36del	XP_011542434.1:n.880+35_880+36del
XM_011544132.2:c.880+35_880+36del	XP_011542434.1:n.880+35_880+36del
NM_000143.4:c.1108+35_1108+36del MANE Select	NP_000134.2:n.1108+35_1108+36del