Canonical Allele Identifier: CA733642136

Gene: FH

Linked Data

• dbSNP Id: rs1392343452
• gnomAD v3: 1-241511734-T-TA
• gnomAD v4: 1-241511734-T-TA
• MyVariant Identifiers: chr1:g.241675034_241675035insA (hg19) ; chr1:g.241511734_241511735insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511735dup , CM000663.2:g.241511735dup	GRCh38
NC_000001.10:g.241675035dup , CM000663.1:g.241675035dup	GRCh37
NC_000001.9:g.239741658dup	NCBI36
NG_012338.1:g.13020dup , LRG_504:g.13020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+232dup
ENST00000682162.1:c.584+232dup	ENSP00000508203.1:n.584+232dup
ENST00000682567.1:n.632+232dup
ENST00000683521.1:c.555+232dup	ENSP00000506864.1:n.555+232dup
ENST00000684483.1:c.555+232dup	ENSP00000507894.1:n.555+232dup
ENST00000366560.4:c.555+232dup MANE Select	ENSP00000355518.4:n.555+232dup
ENST00000366560.3:c.555+232dup	ENSP00000355518.3:n.555+232dup
NM_000143.3:c.555+232dup , LRG_504t1:c.555+232dup	NP_000134.2:n.555+232dup
XM_011544132.1:c.327+232dup	XP_011542434.1:n.327+232dup
XM_011544132.2:c.327+232dup	XP_011542434.1:n.327+232dup
NM_000143.4:c.555+232dup MANE Select	NP_000134.2:n.555+232dup