Canonical Allele Identifier: CA1478625

Gene: FH

Linked Data

• dbSNP Id: rs777257324
• ExAC: 1:241671856 A / G
• gnomAD v2: 1-241671856-A-G
• gnomAD v4: 1-241508556-A-G
• MyVariant Identifiers: chr1:g.241671856A>G (hg19) ; chr1:g.241508556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508556A>G , CM000663.2:g.241508556A>G	GRCh38
NC_000001.10:g.241671856A>G , CM000663.1:g.241671856A>G	GRCh37
NC_000001.9:g.239738479A>G	NCBI36
NG_012338.1:g.16199T>C , LRG_504:g.16199T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1241+47T>C
ENST00000682162.1:c.767+47T>C	ENSP00000508203.1:n.767+47T>C
ENST00000682567.1:n.815+47T>C
ENST00000683521.1:c.738+47T>C	ENSP00000506864.1:n.738+47T>C
ENST00000684161.1:n.1953+47T>C
ENST00000684483.1:c.*134+47T>C	ENSP00000507894.1:n.*134+47T>C
ENST00000366560.4:c.738+47T>C MANE Select	ENSP00000355518.4:n.738+47T>C
ENST00000366560.3:c.738+47T>C	ENSP00000355518.3:n.738+47T>C
NM_000143.3:c.738+47T>C , LRG_504t1:c.738+47T>C	NP_000134.2:n.738+47T>C
XM_011544132.1:c.510+47T>C	XP_011542434.1:n.510+47T>C
XM_011544132.2:c.510+47T>C	XP_011542434.1:n.510+47T>C
NM_000143.4:c.738+47T>C MANE Select	NP_000134.2:n.738+47T>C