Canonical Allele Identifier: CA345440826

Gene: FH

Linked Data

• ClinVar Variation Id: 841162
• ClinVar RCV Id: RCV002320255 ; RCV002552524
• dbSNP Id: rs1303488878
• gnomAD v2: 1-241676971-C-T
• gnomAD v3: 1-241513671-C-T
• gnomAD v4: 1-241513671-C-T
• MyVariant Identifiers: chr1:g.241676971C>T (hg19) ; chr1:g.241513671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241513671C>T , CM000663.2:g.241513671C>T	GRCh38
NC_000001.10:g.241676971C>T , CM000663.1:g.241676971C>T	GRCh37
NC_000001.9:g.239743594C>T	NCBI36
NG_012338.1:g.11084G>A , LRG_504:g.11084G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.813G>A
ENST00000682162.1:c.339G>A	ENSP00000508203.1:n.339G>A
ENST00000682567.1:n.387G>A
ENST00000683521.1:c.310G>A	ENSP00000506864.1:p.Ala104Thr
ENST00000684483.1:c.310G>A	ENSP00000507894.1:p.Ala104Thr
ENST00000366560.4:c.310G>A MANE Select	ENSP00000355518.4:p.Ala104Thr
ENST00000366560.3:c.310G>A	ENSP00000355518.3:p.Ala104Thr
ENST00000497042.1:n.6G>A
NM_000143.3:c.310G>A , LRG_504t1:c.310G>A	NP_000134.2:p.Ala104Thr
XM_011544132.1:c.82G>A	XP_011542434.1:p.Ala28Thr
XM_011544132.2:c.82G>A	XP_011542434.1:p.Ala28Thr
NM_000143.4:c.310G>A MANE Select	NP_000134.2:p.Ala104Thr