Canonical Allele Identifier: CA529928013

Gene: FH

Linked Data

• dbSNP Id: rs1193805675
• gnomAD v2: 1-241667626-T-C
• gnomAD v3: 1-241504326-T-C
• gnomAD v4: 1-241504326-T-C
• MyVariant Identifiers: chr1:g.241667626T>C (hg19) ; chr1:g.241504326T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504326T>C , CM000663.2:g.241504326T>C	GRCh38
NC_000001.10:g.241667626T>C , CM000663.1:g.241667626T>C	GRCh37
NC_000001.9:g.239734249T>C	NCBI36
NG_012338.1:g.20429A>G , LRG_504:g.20429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-81A>G
ENST00000682162.1:c.934-81A>G	ENSP00000508203.1:n.934-81A>G
ENST00000682567.1:n.982-81A>G
ENST00000683521.1:c.905-81A>G	ENSP00000506864.1:n.905-81A>G
ENST00000684161.1:n.2120-81A>G
ENST00000684483.1:c.*301-81A>G	ENSP00000507894.1:n.*301-81A>G
ENST00000366560.4:c.905-81A>G MANE Select	ENSP00000355518.4:n.905-81A>G
ENST00000366560.3:c.905-81A>G	ENSP00000355518.3:n.905-81A>G
NM_000143.3:c.905-81A>G , LRG_504t1:c.905-81A>G	NP_000134.2:n.905-81A>G
XM_011544132.1:c.677-81A>G	XP_011542434.1:n.677-81A>G
XM_011544132.2:c.677-81A>G	XP_011542434.1:n.677-81A>G
NM_000143.4:c.905-81A>G MANE Select	NP_000134.2:n.905-81A>G