Canonical Allele Identifier: CA1478548

Gene: FH

Linked Data

• dbSNP Id: rs200550559
• ExAC: 1:241667313 G / T
• gnomAD v2: 1-241667313-G-T
• gnomAD v3: 1-241504013-G-T
• gnomAD v4: 1-241504013-G-T
• MyVariant Identifiers: chr1:g.241667313G>T (hg19) ; chr1:g.241504013G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504013G>T , CM000663.2:g.241504013G>T	GRCh38
NC_000001.10:g.241667313G>T , CM000663.1:g.241667313G>T	GRCh37
NC_000001.9:g.239733936G>T	NCBI36
NG_012338.1:g.20742C>A , LRG_504:g.20742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1611+29C>A
ENST00000682162.1:c.1137+29C>A	ENSP00000508203.1:n.1137+29C>A
ENST00000682567.1:n.1214C>A
ENST00000683521.1:c.1108+29C>A	ENSP00000506864.1:n.1108+29C>A
ENST00000684161.1:n.2323+29C>A
ENST00000684483.1:c.*504+29C>A	ENSP00000507894.1:n.*504+29C>A
ENST00000366560.4:c.1108+29C>A MANE Select	ENSP00000355518.4:n.1108+29C>A
ENST00000366560.3:c.1108+29C>A	ENSP00000355518.3:n.1108+29C>A
NM_000143.3:c.1108+29C>A , LRG_504t1:c.1108+29C>A	NP_000134.2:n.1108+29C>A
XM_011544132.1:c.880+29C>A	XP_011542434.1:n.880+29C>A
XM_011544132.2:c.880+29C>A	XP_011542434.1:n.880+29C>A
NM_000143.4:c.1108+29C>A MANE Select	NP_000134.2:n.1108+29C>A