Canonical Allele Identifier: CA345438285

Gene: FH

Linked Data

• ClinVar Variation Id: 2024925
• ClinVar RCV Id: RCV002848059
• COSMIC: COSM4030152
• MyVariant Identifiers: chr1:g.241667467A>G (hg19) ; chr1:g.241504167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504167A>G , CM000663.2:g.241504167A>G	GRCh38
NC_000001.10:g.241667467A>G , CM000663.1:g.241667467A>G	GRCh37
NC_000001.9:g.239734090A>G	NCBI36
NG_012338.1:g.20588T>C , LRG_504:g.20588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1486T>C
ENST00000682162.1:c.1012T>C	ENSP00000508203.1:n.1012T>C
ENST00000682567.1:n.1060T>C
ENST00000683521.1:c.983T>C	ENSP00000506864.1:p.Met328Thr
ENST00000684161.1:n.2198T>C
ENST00000684483.1:c.*379T>C	ENSP00000507894.1:n.*379T>C
ENST00000366560.4:c.983T>C MANE Select	ENSP00000355518.4:p.Met328Thr
ENST00000366560.3:c.983T>C	ENSP00000355518.3:p.Met328Thr
NM_000143.3:c.983T>C , LRG_504t1:c.983T>C	NP_000134.2:p.Met328Thr
XM_011544132.1:c.755T>C	XP_011542434.1:p.Met252Thr
XM_011544132.2:c.755T>C	XP_011542434.1:p.Met252Thr
NM_000143.4:c.983T>C MANE Select	NP_000134.2:p.Met328Thr