Canonical Allele Identifier: CA345439470

Gene: FH

Linked Data

• ClinVar Variation Id: 825940
• ClinVar RCV Id: RCV001024482 ; RCV001100768 ; RCV001098959 ; RCV002551893
• dbSNP Id: rs1573883345
• COSMIC: COSM2049924
• MyVariant Identifiers: chr1:g.241672067G>A (hg19) ; chr1:g.241508767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508767G>A , CM000663.2:g.241508767G>A	GRCh38
NC_000001.10:g.241672067G>A , CM000663.1:g.241672067G>A	GRCh37
NC_000001.9:g.239738690G>A	NCBI36
NG_012338.1:g.15988C>T , LRG_504:g.15988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1077C>T
ENST00000682162.1:c.603C>T	ENSP00000508203.1:n.603C>T
ENST00000682567.1:n.651C>T
ENST00000683521.1:c.574C>T	ENSP00000506864.1:p.Pro192Ser
ENST00000684161.1:n.1789C>T
ENST00000684483.1:c.556-7C>T	ENSP00000507894.1:n.556-7C>T
ENST00000366560.4:c.574C>T MANE Select	ENSP00000355518.4:p.Pro192Ser
ENST00000366560.3:c.574C>T	ENSP00000355518.3:p.Pro192Ser
NM_000143.3:c.574C>T , LRG_504t1:c.574C>T	NP_000134.2:p.Pro192Ser
XM_011544132.1:c.346C>T	XP_011542434.1:p.Pro116Ser
XM_011544132.2:c.346C>T	XP_011542434.1:p.Pro116Ser
NM_000143.4:c.574C>T MANE Select	NP_000134.2:p.Pro192Ser