Canonical Allele Identifier: CA16610056

Gene: FH

Linked Data

• ClinVar Variation Id: 405921
• ClinVar RCV Id: RCV001577061 ; RCV003278809
• dbSNP Id: rs1060500901
• MyVariant Identifiers: chr1:g.241671901A>G (hg19) ; chr1:g.241508601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508601A>G , CM000663.2:g.241508601A>G	GRCh38
NC_000001.10:g.241671901A>G , CM000663.1:g.241671901A>G	GRCh37
NC_000001.9:g.239738524A>G	NCBI36
NG_012338.1:g.16154T>C , LRG_504:g.16154T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1241+2T>C
ENST00000682162.1:c.767+2T>C	ENSP00000508203.1:n.767+2T>C
ENST00000682567.1:n.815+2T>C
ENST00000683521.1:c.738+2T>C	ENSP00000506864.1:n.738+2T>C
ENST00000684161.1:n.1953+2T>C
ENST00000684483.1:c.*134+2T>C	ENSP00000507894.1:n.*134+2T>C
ENST00000366560.4:c.738+2T>C MANE Select	ENSP00000355518.4:n.738+2T>C
ENST00000366560.3:c.738+2T>C	ENSP00000355518.3:n.738+2T>C
NM_000143.3:c.738+2T>C , LRG_504t1:c.738+2T>C	NP_000134.2:n.738+2T>C
XM_011544132.1:c.510+2T>C	XP_011542434.1:n.510+2T>C
XM_011544132.2:c.510+2T>C	XP_011542434.1:n.510+2T>C
NM_000143.4:c.738+2T>C MANE Select	NP_000134.2:n.738+2T>C