Canonical Allele Identifier: CA345439279

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671972T>G (hg19) ; chr1:g.241508672T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508672T>G , CM000663.2:g.241508672T>G	GRCh38
NC_000001.10:g.241671972T>G , CM000663.1:g.241671972T>G	GRCh37
NC_000001.9:g.239738595T>G	NCBI36
NG_012338.1:g.16083A>C , LRG_504:g.16083A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1172A>C
ENST00000682162.1:c.698A>C	ENSP00000508203.1:n.698A>C
ENST00000682567.1:n.746A>C
ENST00000683521.1:c.669A>C	ENSP00000506864.1:p.Lys223Asn
ENST00000684161.1:n.1884A>C
ENST00000684483.1:c.*65A>C	ENSP00000507894.1:n.*65A>C
ENST00000366560.4:c.669A>C MANE Select	ENSP00000355518.4:p.Lys223Asn
ENST00000366560.3:c.669A>C	ENSP00000355518.3:p.Lys223Asn
NM_000143.3:c.669A>C , LRG_504t1:c.669A>C	NP_000134.2:p.Lys223Asn
XM_011544132.1:c.441A>C	XP_011542434.1:p.Lys147Asn
XM_011544132.2:c.441A>C	XP_011542434.1:p.Lys147Asn
NM_000143.4:c.669A>C MANE Select	NP_000134.2:p.Lys223Asn