Canonical Allele Identifier: CA1478783

Gene: FH

Linked Data

• ClinVar Variation Id: 296876
• ClinVar RCV Id: RCV000315971 ; RCV000372989 ; RCV000564759 ; RCV001706443 ; RCV002268018 ; RCV004555551
• dbSNP Id: rs200542051
• ExAC: 1:241682990 C / G
• gnomAD v2: 1-241682990-C-G
• gnomAD v3: 1-241519690-C-G
• gnomAD v4: 1-241519690-C-G
• MyVariant Identifiers: chr1:g.241682990C>G (hg19) ; chr1:g.241519690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519690C>G , CM000663.2:g.241519690C>G	GRCh38
NC_000001.10:g.241682990C>G , CM000663.1:g.241682990C>G	GRCh37
NC_000001.9:g.239749613C>G	NCBI36
NG_012338.1:g.5065G>C , LRG_504:g.5065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.5G>C
ENST00000682162.1:c.33G>C	ENSP00000508203.1:p.Ser11=
ENST00000682567.1:n.110G>C
ENST00000683521.1:c.33G>C	ENSP00000506864.1:p.Ser11=
ENST00000684483.1:c.33G>C	ENSP00000507894.1:p.Ser11=
ENST00000366560.4:c.33G>C MANE Select	ENSP00000355518.4:p.Ser11=
ENST00000366560.3:c.33G>C	ENSP00000355518.3:p.Ser11=
NM_000143.3:c.33G>C , LRG_504t1:c.33G>C	NP_000134.2:p.Ser11=
XM_011544132.2:c.-727G>C	XP_011542434.1:n.-727G>C
NM_000143.4:c.33G>C MANE Select	NP_000134.2:p.Ser11=