Canonical Allele Identifier: CA345436877

Gene: FH

Linked Data

• ClinVar Variation Id: 2805452
• ClinVar RCV Id: RCV003676763 ; RCV004371631
• dbSNP Id: rs200004220
• MyVariant Identifiers: chr1:g.241663872A>C (hg19) ; chr1:g.241500572A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500572A>C , CM000663.2:g.241500572A>C	GRCh38
NC_000001.10:g.241663872A>C , CM000663.1:g.241663872A>C	GRCh37
NC_000001.9:g.239730495A>C	NCBI36
NG_012338.1:g.24183T>G , LRG_504:g.24183T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1758T>G
ENST00000682162.1:c.1284T>G	ENSP00000508203.1:n.1284T>G
ENST00000682567.1:n.4655T>G
ENST00000683521.1:c.1255T>G	ENSP00000506864.1:p.Ser419Ala
ENST00000684161.1:n.2470T>G
ENST00000684483.1:c.*651T>G	ENSP00000507894.1:n.*651T>G
ENST00000366560.4:c.1255T>G MANE Select	ENSP00000355518.4:p.Ser419Ala
ENST00000366560.3:c.1255T>G	ENSP00000355518.3:p.Ser419Ala
NM_000143.3:c.1255T>G , LRG_504t1:c.1255T>G	NP_000134.2:p.Ser419Ala
XM_011544132.1:c.1027T>G	XP_011542434.1:p.Ser343Ala
XM_011544132.2:c.1027T>G	XP_011542434.1:p.Ser343Ala
NM_000143.4:c.1255T>G MANE Select	NP_000134.2:p.Ser419Ala