Canonical Allele Identifier: CA345438206

Gene: FH

Linked Data

• gnomAD v4: 1-241504130-A-C
• MyVariant Identifiers: chr1:g.241667430A>C (hg19) ; chr1:g.241504130A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504130A>C , CM000663.2:g.241504130A>C	GRCh38
NC_000001.10:g.241667430A>C , CM000663.1:g.241667430A>C	GRCh37
NC_000001.9:g.239734053A>C	NCBI36
NG_012338.1:g.20625T>G , LRG_504:g.20625T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1523T>G
ENST00000682162.1:c.1049T>G	ENSP00000508203.1:n.1049T>G
ENST00000682567.1:n.1097T>G
ENST00000683521.1:c.1020T>G	ENSP00000506864.1:p.Asn340Lys
ENST00000684161.1:n.2235T>G
ENST00000684483.1:c.*416T>G	ENSP00000507894.1:n.*416T>G
ENST00000366560.4:c.1020T>G MANE Select	ENSP00000355518.4:p.Asn340Lys
ENST00000366560.3:c.1020T>G	ENSP00000355518.3:p.Asn340Lys
NM_000143.3:c.1020T>G , LRG_504t1:c.1020T>G	NP_000134.2:p.Asn340Lys
XM_011544132.1:c.792T>G	XP_011542434.1:p.Asn264Lys
XM_011544132.2:c.792T>G	XP_011542434.1:p.Asn264Lys
NM_000143.4:c.1020T>G MANE Select	NP_000134.2:p.Asn340Lys