Canonical Allele Identifier: CA424076285

Gene: FH

Linked Data

• ClinVar Variation Id: 2109968
• ClinVar RCV Id: RCV003042136
• COSMIC: COSM906409
• MyVariant Identifiers: chr1:g.241675321A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512021A>G , CM000663.2:g.241512021A>G	GRCh38
NC_000001.10:g.241675321A>G , CM000663.1:g.241675321A>G	GRCh37
NC_000001.9:g.239741944A>G	NCBI36
NG_012338.1:g.12734T>C , LRG_504:g.12734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1004T>C
ENST00000682162.1:c.530T>C	ENSP00000508203.1:n.530T>C
ENST00000682567.1:n.578T>C
ENST00000683521.1:c.501T>C	ENSP00000506864.1:p.Gly167=
ENST00000684483.1:c.501T>C	ENSP00000507894.1:p.Gly167=
ENST00000366560.4:c.501T>C MANE Select	ENSP00000355518.4:p.Gly167=
ENST00000366560.3:c.501T>C	ENSP00000355518.3:p.Gly167=
ENST00000497042.1:n.197T>C
NM_000143.3:c.501T>C , LRG_504t1:c.501T>C	NP_000134.2:p.Gly167=
XM_011544132.1:c.273T>C	XP_011542434.1:p.Gly91=
XM_011544132.2:c.273T>C	XP_011542434.1:p.Gly91=
NM_000143.4:c.501T>C MANE Select	NP_000134.2:p.Gly167=