Canonical Allele Identifier: CA345438346

Gene: FH

Linked Data

• ClinVar Variation Id: 1074129
• ClinVar RCV Id: RCV002551557 ; RCV003298632
• dbSNP Id: rs2147916281
• gnomAD v4: 1-241504200-G-A
• MyVariant Identifiers: chr1:g.241667500G>A (hg19) ; chr1:g.241504200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504200G>A , CM000663.2:g.241504200G>A	GRCh38
NC_000001.10:g.241667500G>A , CM000663.1:g.241667500G>A	GRCh37
NC_000001.9:g.239734123G>A	NCBI36
NG_012338.1:g.20555C>T , LRG_504:g.20555C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1453C>T
ENST00000682162.1:c.979C>T	ENSP00000508203.1:n.979C>T
ENST00000682567.1:n.1027C>T
ENST00000683521.1:c.950C>T	ENSP00000506864.1:p.Ala317Val
ENST00000684161.1:n.2165C>T
ENST00000684483.1:c.*346C>T	ENSP00000507894.1:n.*346C>T
ENST00000366560.4:c.950C>T MANE Select	ENSP00000355518.4:p.Ala317Val
ENST00000366560.3:c.950C>T	ENSP00000355518.3:p.Ala317Val
NM_000143.3:c.950C>T , LRG_504t1:c.950C>T	NP_000134.2:p.Ala317Val
XM_011544132.1:c.722C>T	XP_011542434.1:p.Ala241Val
XM_011544132.2:c.722C>T	XP_011542434.1:p.Ala241Val
NM_000143.4:c.950C>T MANE Select	NP_000134.2:p.Ala317Val