Canonical Allele Identifier: CA529928000

Gene: FH

Linked Data

• dbSNP Id: rs1210098681
• gnomAD v2: 1-241667605-A-G
• gnomAD v3: 1-241504305-A-G
• gnomAD v4: 1-241504305-A-G
• MyVariant Identifiers: chr1:g.241667605A>G (hg19) ; chr1:g.241504305A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504305A>G , CM000663.2:g.241504305A>G	GRCh38
NC_000001.10:g.241667605A>G , CM000663.1:g.241667605A>G	GRCh37
NC_000001.9:g.239734228A>G	NCBI36
NG_012338.1:g.20450T>C , LRG_504:g.20450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-60T>C
ENST00000682162.1:c.934-60T>C	ENSP00000508203.1:n.934-60T>C
ENST00000682567.1:n.982-60T>C
ENST00000683521.1:c.905-60T>C	ENSP00000506864.1:n.905-60T>C
ENST00000684161.1:n.2120-60T>C
ENST00000684483.1:c.*301-60T>C	ENSP00000507894.1:n.*301-60T>C
ENST00000366560.4:c.905-60T>C MANE Select	ENSP00000355518.4:n.905-60T>C
ENST00000366560.3:c.905-60T>C	ENSP00000355518.3:n.905-60T>C
NM_000143.3:c.905-60T>C , LRG_504t1:c.905-60T>C	NP_000134.2:n.905-60T>C
XM_011544132.1:c.677-60T>C	XP_011542434.1:n.677-60T>C
XM_011544132.2:c.677-60T>C	XP_011542434.1:n.677-60T>C
NM_000143.4:c.905-60T>C MANE Select	NP_000134.2:n.905-60T>C