Canonical Allele Identifier: CA529928010

Gene: FH

Linked Data

• dbSNP Id: rs1489004475
• gnomAD v2: 1-241667625-G-A
• gnomAD v3: 1-241504325-G-A
• gnomAD v4: 1-241504325-G-A
• MyVariant Identifiers: chr1:g.241667625G>A (hg19) ; chr1:g.241504325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504325G>A , CM000663.2:g.241504325G>A	GRCh38
NC_000001.10:g.241667625G>A , CM000663.1:g.241667625G>A	GRCh37
NC_000001.9:g.239734248G>A	NCBI36
NG_012338.1:g.20430C>T , LRG_504:g.20430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-80C>T
ENST00000682162.1:c.934-80C>T	ENSP00000508203.1:n.934-80C>T
ENST00000682567.1:n.982-80C>T
ENST00000683521.1:c.905-80C>T	ENSP00000506864.1:n.905-80C>T
ENST00000684161.1:n.2120-80C>T
ENST00000684483.1:c.*301-80C>T	ENSP00000507894.1:n.*301-80C>T
ENST00000366560.4:c.905-80C>T MANE Select	ENSP00000355518.4:n.905-80C>T
ENST00000366560.3:c.905-80C>T	ENSP00000355518.3:n.905-80C>T
NM_000143.3:c.905-80C>T , LRG_504t1:c.905-80C>T	NP_000134.2:n.905-80C>T
XM_011544132.1:c.677-80C>T	XP_011542434.1:n.677-80C>T
XM_011544132.2:c.677-80C>T	XP_011542434.1:n.677-80C>T
NM_000143.4:c.905-80C>T MANE Select	NP_000134.2:n.905-80C>T