Canonical Allele Identifier: CA16609367

Gene: FH

Linked Data

• ClinVar Variation Id: 393573
• ClinVar RCV Id: RCV000445594
• dbSNP Id: rs1060499638
• MyVariant Identifiers: chr1:g.241669387C>G (hg19) ; chr1:g.241506087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506087C>G , CM000663.2:g.241506087C>G	GRCh38
NC_000001.10:g.241669387C>G , CM000663.1:g.241669387C>G	GRCh37
NC_000001.9:g.239736010C>G	NCBI36
NG_012338.1:g.18668G>C , LRG_504:g.18668G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1323G>C
ENST00000682162.1:c.849G>C	ENSP00000508203.1:n.849G>C
ENST00000682567.1:n.897G>C
ENST00000683521.1:c.820G>C	ENSP00000506864.1:p.Ala274Pro
ENST00000684161.1:n.2035G>C
ENST00000684483.1:c.*216G>C	ENSP00000507894.1:n.*216G>C
ENST00000366560.4:c.820G>C MANE Select	ENSP00000355518.4:p.Ala274Pro
ENST00000366560.3:c.820G>C	ENSP00000355518.3:p.Ala274Pro
NM_000143.3:c.820G>C , LRG_504t1:c.820G>C	NP_000134.2:p.Ala274Pro
XM_011544132.1:c.592G>C	XP_011542434.1:p.Ala198Pro
XM_011544132.2:c.592G>C	XP_011542434.1:p.Ala198Pro
NM_000143.4:c.820G>C MANE Select	NP_000134.2:p.Ala274Pro