Canonical Allele Identifier: CA345440006

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675341C>A (hg19) ; chr1:g.241512041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512041C>A , CM000663.2:g.241512041C>A	GRCh38
NC_000001.10:g.241675341C>A , CM000663.1:g.241675341C>A	GRCh37
NC_000001.9:g.239741964C>A	NCBI36
NG_012338.1:g.12714G>T , LRG_504:g.12714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.984G>T
ENST00000682162.1:c.510G>T	ENSP00000508203.1:n.510G>T
ENST00000682567.1:n.558G>T
ENST00000683521.1:c.481G>T	ENSP00000506864.1:p.Ala161Ser
ENST00000684483.1:c.481G>T	ENSP00000507894.1:p.Ala161Ser
ENST00000366560.4:c.481G>T MANE Select	ENSP00000355518.4:p.Ala161Ser
ENST00000366560.3:c.481G>T	ENSP00000355518.3:p.Ala161Ser
ENST00000497042.1:n.177G>T
NM_000143.3:c.481G>T , LRG_504t1:c.481G>T	NP_000134.2:p.Ala161Ser
XM_011544132.1:c.253G>T	XP_011542434.1:p.Ala85Ser
XM_011544132.2:c.253G>T	XP_011542434.1:p.Ala85Ser
NM_000143.4:c.481G>T MANE Select	NP_000134.2:p.Ala161Ser