Canonical Allele Identifier: CA345439272

Gene: FH

Linked Data

• ClinVar Variation Id: 2751063
• ClinVar RCV Id: RCV003563765
• dbSNP Id: rs1659992801
• MyVariant Identifiers: chr1:g.241671969C>G (hg19) ; chr1:g.241508669C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508669C>G , CM000663.2:g.241508669C>G	GRCh38
NC_000001.10:g.241671969C>G , CM000663.1:g.241671969C>G	GRCh37
NC_000001.9:g.239738592C>G	NCBI36
NG_012338.1:g.16086G>C , LRG_504:g.16086G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1175G>C
ENST00000682162.1:c.701G>C	ENSP00000508203.1:n.701G>C
ENST00000682567.1:n.749G>C
ENST00000683521.1:c.672G>C	ENSP00000506864.1:p.Glu224Asp
ENST00000684161.1:n.1887G>C
ENST00000684483.1:c.*68G>C	ENSP00000507894.1:n.*68G>C
ENST00000366560.4:c.672G>C MANE Select	ENSP00000355518.4:p.Glu224Asp
ENST00000366560.3:c.672G>C	ENSP00000355518.3:p.Glu224Asp
NM_000143.3:c.672G>C , LRG_504t1:c.672G>C	NP_000134.2:p.Glu224Asp
XM_011544132.1:c.444G>C	XP_011542434.1:p.Glu148Asp
XM_011544132.2:c.444G>C	XP_011542434.1:p.Glu148Asp
NM_000143.4:c.672G>C MANE Select	NP_000134.2:p.Glu224Asp