Canonical Allele Identifier: CA345438950

Gene: FH

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506084C>A , CM000663.2:g.241506084C>A	GRCh38
NC_000001.10:g.241669384C>A , CM000663.1:g.241669384C>A	GRCh37
NC_000001.9:g.239736007C>A	NCBI36
NG_012338.1:g.18671G>T , LRG_504:g.18671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1326G>T
ENST00000682162.1:c.852G>T	ENSP00000508203.1:n.852G>T
ENST00000682567.1:n.900G>T
ENST00000683521.1:c.823G>T	ENSP00000506864.1:p.Gly275Ter
ENST00000684161.1:n.2038G>T
ENST00000684483.1:c.*219G>T	ENSP00000507894.1:n.*219G>T
ENST00000366560.4:c.823G>T MANE Select	ENSP00000355518.4:p.Gly275Ter
ENST00000366560.3:c.823G>T	ENSP00000355518.3:p.Gly275Ter
NM_000143.3:c.823G>T , LRG_504t1:c.823G>T	NP_000134.2:p.Gly275Ter
XM_011544132.1:c.595G>T	XP_011542434.1:p.Gly199Ter
XM_011544132.2:c.595G>T	XP_011542434.1:p.Gly199Ter
NM_000143.4:c.823G>T MANE Select	NP_000134.2:p.Gly275Ter