Canonical Allele Identifier: CA345442019

Gene: FH

Linked Data

• ClinVar Variation Id: 1432248
• ClinVar RCV Id: RCV002560740 ; RCV004042049
• dbSNP Id: rs1558402284
• gnomAD v4: 1-241517301-A-G
• MyVariant Identifiers: chr1:g.241680601A>G (hg19) ; chr1:g.241517301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517301A>G , CM000663.2:g.241517301A>G	GRCh38
NC_000001.10:g.241680601A>G , CM000663.1:g.241680601A>G	GRCh37
NC_000001.9:g.239747224A>G	NCBI36
NG_012338.1:g.7454T>C , LRG_504:g.7454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.651T>C
ENST00000682162.1:c.177T>C	ENSP00000508203.1:p.Pro59=
ENST00000682567.1:n.225T>C
ENST00000683521.1:c.148T>C	ENSP00000506864.1:p.Phe50Leu
ENST00000684483.1:c.148T>C	ENSP00000507894.1:p.Phe50Leu
ENST00000366560.4:c.148T>C MANE Select	ENSP00000355518.4:p.Phe50Leu
ENST00000366560.3:c.148T>C	ENSP00000355518.3:p.Phe50Leu
ENST00000493477.1:n.261T>C
NM_000143.3:c.148T>C , LRG_504t1:c.148T>C	NP_000134.2:p.Phe50Leu
XM_011544132.1:c.-81T>C	XP_011542434.1:n.-81T>C
XM_011544132.2:c.-81T>C	XP_011542434.1:n.-81T>C
NM_000143.4:c.148T>C MANE Select	NP_000134.2:p.Phe50Leu