Canonical Allele Identifier: CA345441912

Gene: FH

Linked Data

• ClinVar Variation Id: 957362
• ClinVar RCV Id: RCV001230326
• dbSNP Id: rs1660244612
• MyVariant Identifiers: chr1:g.241680568T>G (hg19) ; chr1:g.241517268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517268T>G , CM000663.2:g.241517268T>G	GRCh38
NC_000001.10:g.241680568T>G , CM000663.1:g.241680568T>G	GRCh37
NC_000001.9:g.239747191T>G	NCBI36
NG_012338.1:g.7487A>C , LRG_504:g.7487A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.684A>C
ENST00000682162.1:c.210A>C	ENSP00000508203.1:n.210A>C
ENST00000682567.1:n.258A>C
ENST00000683521.1:c.181A>C	ENSP00000506864.1:p.Lys61Gln
ENST00000684483.1:c.181A>C	ENSP00000507894.1:p.Lys61Gln
ENST00000366560.4:c.181A>C MANE Select	ENSP00000355518.4:p.Lys61Gln
ENST00000366560.3:c.181A>C	ENSP00000355518.3:p.Lys61Gln
ENST00000493477.1:n.294A>C
NM_000143.3:c.181A>C , LRG_504t1:c.181A>C	NP_000134.2:p.Lys61Gln
XM_011544132.1:c.-48A>C	XP_011542434.1:n.-48A>C
XM_011544132.2:c.-48A>C	XP_011542434.1:n.-48A>C
NM_000143.4:c.181A>C MANE Select	NP_000134.2:p.Lys61Gln