Canonical Allele Identifier: CA40327742

Gene: FH

Linked Data

• dbSNP Id: rs944191775
• gnomAD v2: 1-241665625-A-G
• gnomAD v3: 1-241502325-A-G
• gnomAD v4: 1-241502325-A-G
• MyVariant Identifiers: chr1:g.241665625A>G (hg19) ; chr1:g.241502325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502325A>G , CM000663.2:g.241502325A>G	GRCh38
NC_000001.10:g.241665625A>G , CM000663.1:g.241665625A>G	GRCh37
NC_000001.9:g.239732248A>G	NCBI36
NG_012338.1:g.22430T>C , LRG_504:g.22430T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+118T>C
ENST00000682162.1:c.1265+118T>C	ENSP00000508203.1:n.1265+118T>C
ENST00000682567.1:n.2902T>C
ENST00000683521.1:c.1236+118T>C	ENSP00000506864.1:n.1236+118T>C
ENST00000684161.1:n.2451+118T>C
ENST00000684483.1:c.*632+118T>C	ENSP00000507894.1:n.*632+118T>C
ENST00000366560.4:c.1236+118T>C MANE Select	ENSP00000355518.4:n.1236+118T>C
ENST00000366560.3:c.1236+118T>C	ENSP00000355518.3:n.1236+118T>C
NM_000143.3:c.1236+118T>C , LRG_504t1:c.1236+118T>C	NP_000134.2:n.1236+118T>C
XM_011544132.1:c.1008+118T>C	XP_011542434.1:n.1008+118T>C
XM_011544132.2:c.1008+118T>C	XP_011542434.1:n.1008+118T>C
NM_000143.4:c.1236+118T>C MANE Select	NP_000134.2:n.1236+118T>C