Canonical Allele Identifier: CA40329369

Gene: FH

Linked Data

• dbSNP Id: rs199704598
• MyVariant Identifiers: chr1:g.241671945T>A (hg19) ; chr1:g.241508645T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508645T>A , CM000663.2:g.241508645T>A	GRCh38
NC_000001.10:g.241671945T>A , CM000663.1:g.241671945T>A	GRCh37
NC_000001.9:g.239738568T>A	NCBI36
NG_012338.1:g.16110A>T , LRG_504:g.16110A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1199A>T
ENST00000682162.1:c.725A>T	ENSP00000508203.1:n.725A>T
ENST00000682567.1:n.773A>T
ENST00000683521.1:c.696A>T	ENSP00000506864.1:p.Gly232=
ENST00000684161.1:n.1911A>T
ENST00000684483.1:c.*92A>T	ENSP00000507894.1:n.*92A>T
ENST00000366560.4:c.696A>T MANE Select	ENSP00000355518.4:p.Gly232=
ENST00000366560.3:c.696A>T	ENSP00000355518.3:p.Gly232=
NM_000143.3:c.696A>T , LRG_504t1:c.696A>T	NP_000134.2:p.Gly232=
XM_011544132.1:c.468A>T	XP_011542434.1:p.Gly156=
XM_011544132.2:c.468A>T	XP_011542434.1:p.Gly156=
NM_000143.4:c.696A>T MANE Select	NP_000134.2:p.Gly232=