Canonical Allele Identifier: CA345439976

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675328A>G (hg19) ; chr1:g.241512028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512028A>G , CM000663.2:g.241512028A>G	GRCh38
NC_000001.10:g.241675328A>G , CM000663.1:g.241675328A>G	GRCh37
NC_000001.9:g.239741951A>G	NCBI36
NG_012338.1:g.12727T>C , LRG_504:g.12727T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.997T>C
ENST00000682162.1:c.523T>C	ENSP00000508203.1:n.523T>C
ENST00000682567.1:n.571T>C
ENST00000683521.1:c.494T>C	ENSP00000506864.1:p.Leu165Ser
ENST00000684483.1:c.494T>C	ENSP00000507894.1:p.Leu165Ser
ENST00000366560.4:c.494T>C MANE Select	ENSP00000355518.4:p.Leu165Ser
ENST00000366560.3:c.494T>C	ENSP00000355518.3:p.Leu165Ser
ENST00000497042.1:n.190T>C
NM_000143.3:c.494T>C , LRG_504t1:c.494T>C	NP_000134.2:p.Leu165Ser
XM_011544132.1:c.266T>C	XP_011542434.1:p.Leu89Ser
XM_011544132.2:c.266T>C	XP_011542434.1:p.Leu89Ser
NM_000143.4:c.494T>C MANE Select	NP_000134.2:p.Leu165Ser