Canonical Allele Identifier: CA345440062

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675365C>G (hg19) ; chr1:g.241512065C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512065C>G , CM000663.2:g.241512065C>G	GRCh38
NC_000001.10:g.241675365C>G , CM000663.1:g.241675365C>G	GRCh37
NC_000001.9:g.239741988C>G	NCBI36
NG_012338.1:g.12690G>C , LRG_504:g.12690G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.960G>C
ENST00000682162.1:c.486G>C	ENSP00000508203.1:n.486G>C
ENST00000682567.1:n.534G>C
ENST00000683521.1:c.457G>C	ENSP00000506864.1:p.Val153Leu
ENST00000684483.1:c.457G>C	ENSP00000507894.1:p.Val153Leu
ENST00000366560.4:c.457G>C MANE Select	ENSP00000355518.4:p.Val153Leu
ENST00000366560.3:c.457G>C	ENSP00000355518.3:p.Val153Leu
ENST00000497042.1:n.153G>C
NM_000143.3:c.457G>C , LRG_504t1:c.457G>C	NP_000134.2:p.Val153Leu
XM_011544132.1:c.229G>C	XP_011542434.1:p.Val77Leu
XM_011544132.2:c.229G>C	XP_011542434.1:p.Val77Leu
NM_000143.4:c.457G>C MANE Select	NP_000134.2:p.Val153Leu