Canonical Allele Identifier: CA1478427

Gene: FH

Linked Data

• ClinVar Variation Id: 237111
• ClinVar RCV Id: RCV000228601 ; RCV001011810 ; RCV001097100 ; RCV001589167 ; RCV002267976 ; RCV004555546
• dbSNP Id: rs201559643
• ExAC: 1:241661179 T / C
• gnomAD v2: 1-241661179-T-C
• gnomAD v3: 1-241497879-T-C
• gnomAD v4: 1-241497879-T-C
• MyVariant Identifiers: chr1:g.241661179T>C (hg19) ; chr1:g.241497879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497879T>C , CM000663.2:g.241497879T>C	GRCh38
NC_000001.10:g.241661179T>C , CM000663.1:g.241661179T>C	GRCh37
NC_000001.9:g.239727802T>C	NCBI36
NG_012338.1:g.26876A>G , LRG_504:g.26876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1985A>G
ENST00000682162.1:c.1511A>G	ENSP00000508203.1:n.1511A>G
ENST00000682567.1:n.4882A>G
ENST00000684161.1:n.2697A>G
ENST00000684483.1:c.*878A>G	ENSP00000507894.1:n.*878A>G
ENST00000366560.4:c.1482A>G MANE Select	ENSP00000355518.4:p.Ala494=
ENST00000366560.3:c.1482A>G	ENSP00000355518.3:p.Ala494=
NM_000143.3:c.1482A>G , LRG_504t1:c.1482A>G	NP_000134.2:p.Ala494=
XM_011544132.1:c.1254A>G	XP_011542434.1:p.Ala418=
XM_011544132.2:c.1254A>G	XP_011542434.1:p.Ala418=
NM_000143.4:c.1482A>G MANE Select	NP_000134.2:p.Ala494=