Canonical Allele Identifier: CA189288

Gene: FH

Linked Data

• ClinVar Variation Id: 184555
• ClinVar RCV Id: RCV000163828 ; RCV000195694 ; RCV003467282 ; RCV002498811 ; RCV003316008
• dbSNP Id: rs372505976
• gnomAD v2: 1-241671941-T-C
• gnomAD v4: 1-241508641-T-C
• MyVariant Identifiers: chr1:g.241671941T>C (hg19) ; chr1:g.241508641T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508641T>C , CM000663.2:g.241508641T>C	GRCh38
NC_000001.10:g.241671941T>C , CM000663.1:g.241671941T>C	GRCh37
NC_000001.9:g.239738564T>C	NCBI36
NG_012338.1:g.16114A>G , LRG_504:g.16114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1203A>G
ENST00000682162.1:c.729A>G	ENSP00000508203.1:n.729A>G
ENST00000682567.1:n.777A>G
ENST00000683521.1:c.700A>G	ENSP00000506864.1:p.Thr234Ala
ENST00000684161.1:n.1915A>G
ENST00000684483.1:c.*96A>G	ENSP00000507894.1:n.*96A>G
ENST00000366560.4:c.700A>G MANE Select	ENSP00000355518.4:p.Thr234Ala
ENST00000366560.3:c.700A>G	ENSP00000355518.3:p.Thr234Ala
NM_000143.3:c.700A>G , LRG_504t1:c.700A>G	NP_000134.2:p.Thr234Ala
XM_011544132.1:c.472A>G	XP_011542434.1:p.Thr158Ala
XM_011544132.2:c.472A>G	XP_011542434.1:p.Thr158Ala
NM_000143.4:c.700A>G MANE Select	NP_000134.2:p.Thr234Ala