Canonical Allele Identifier: CA40336010

Gene: FH

Linked Data

• dbSNP Id: rs199894369
• MyVariant Identifiers: chr1:g.241680565C>A (hg19) ; chr1:g.241517265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517265C>A , CM000663.2:g.241517265C>A	GRCh38
NC_000001.10:g.241680565C>A , CM000663.1:g.241680565C>A	GRCh37
NC_000001.9:g.239747188C>A	NCBI36
NG_012338.1:g.7490G>T , LRG_504:g.7490G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.687G>T
ENST00000682162.1:c.213G>T	ENSP00000508203.1:n.213G>T
ENST00000682567.1:n.261G>T
ENST00000683521.1:c.184G>T	ENSP00000506864.1:p.Val62Leu
ENST00000684483.1:c.184G>T	ENSP00000507894.1:p.Val62Leu
ENST00000366560.4:c.184G>T MANE Select	ENSP00000355518.4:p.Val62Leu
ENST00000366560.3:c.184G>T	ENSP00000355518.3:p.Val62Leu
ENST00000493477.1:n.297G>T
NM_000143.3:c.184G>T , LRG_504t1:c.184G>T	NP_000134.2:p.Val62Leu
XM_011544132.1:c.-45G>T	XP_011542434.1:n.-45G>T
XM_011544132.2:c.-45G>T	XP_011542434.1:n.-45G>T
NM_000143.4:c.184G>T MANE Select	NP_000134.2:p.Val62Leu