Canonical Allele Identifier: CA345439314

Gene: FH

Linked Data

• ClinVar Variation Id: 2732829
• ClinVar RCV Id: RCV003561920
• dbSNP Id: rs1370459100
• MyVariant Identifiers: chr1:g.241671992C>A (hg19) ; chr1:g.241508692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508692C>A , CM000663.2:g.241508692C>A	GRCh38
NC_000001.10:g.241671992C>A , CM000663.1:g.241671992C>A	GRCh37
NC_000001.9:g.239738615C>A	NCBI36
NG_012338.1:g.16063G>T , LRG_504:g.16063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1152G>T
ENST00000682162.1:c.678G>T	ENSP00000508203.1:n.678G>T
ENST00000682567.1:n.726G>T
ENST00000683521.1:c.649G>T	ENSP00000506864.1:p.Ala217Ser
ENST00000684161.1:n.1864G>T
ENST00000684483.1:c.*45G>T	ENSP00000507894.1:n.*45G>T
ENST00000366560.4:c.649G>T MANE Select	ENSP00000355518.4:p.Ala217Ser
ENST00000366560.3:c.649G>T	ENSP00000355518.3:p.Ala217Ser
NM_000143.3:c.649G>T , LRG_504t1:c.649G>T	NP_000134.2:p.Ala217Ser
XM_011544132.1:c.421G>T	XP_011542434.1:p.Ala141Ser
XM_011544132.2:c.421G>T	XP_011542434.1:p.Ala141Ser
NM_000143.4:c.649G>T MANE Select	NP_000134.2:p.Ala217Ser