Canonical Allele Identifier: CA345439159

Gene: FH

Linked Data

• dbSNP Id: rs2147919401
• MyVariant Identifiers: chr1:g.241671913G>A (hg19) ; chr1:g.241508613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508613G>A , CM000663.2:g.241508613G>A	GRCh38
NC_000001.10:g.241671913G>A , CM000663.1:g.241671913G>A	GRCh37
NC_000001.9:g.239738536G>A	NCBI36
NG_012338.1:g.16142C>T , LRG_504:g.16142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1231C>T
ENST00000682162.1:c.757C>T	ENSP00000508203.1:n.757C>T
ENST00000682567.1:n.805C>T
ENST00000683521.1:c.728C>T	ENSP00000506864.1:p.Thr243Ile
ENST00000684161.1:n.1943C>T
ENST00000684483.1:c.*124C>T	ENSP00000507894.1:n.*124C>T
ENST00000366560.4:c.728C>T MANE Select	ENSP00000355518.4:p.Thr243Ile
ENST00000366560.3:c.728C>T	ENSP00000355518.3:p.Thr243Ile
NM_000143.3:c.728C>T , LRG_504t1:c.728C>T	NP_000134.2:p.Thr243Ile
XM_011544132.1:c.500C>T	XP_011542434.1:p.Thr167Ile
XM_011544132.2:c.500C>T	XP_011542434.1:p.Thr167Ile
NM_000143.4:c.728C>T MANE Select	NP_000134.2:p.Thr243Ile