Canonical Allele Identifier: CA424076286
Gene: FH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.241675321A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512021A>T , CM000663.2:g.241512021A>T GRCh38
NC_000001.10:g.241675321A>T , CM000663.1:g.241675321A>T GRCh37
NC_000001.9:g.239741944A>T NCBI36
NG_012338.1:g.12734T>A , LRG_504:g.12734T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1004T>A
ENST00000682162.1:c.530T>A ENSP00000508203.1:n.530T>A
ENST00000682567.1:n.578T>A
ENST00000683521.1:c.501T>A ENSP00000506864.1:p.Gly167=
ENST00000684483.1:c.501T>A ENSP00000507894.1:p.Gly167=
ENST00000366560.4:c.501T>A MANE Select ENSP00000355518.4:p.Gly167=
ENST00000366560.3:c.501T>A ENSP00000355518.3:p.Gly167=
ENST00000497042.1:n.197T>A
NM_000143.3:c.501T>A , LRG_504t1:c.501T>A NP_000134.2:p.Gly167=
XM_011544132.1:c.273T>A XP_011542434.1:p.Gly91=
XM_011544132.2:c.273T>A XP_011542434.1:p.Gly91=
NM_000143.4:c.501T>A MANE Select NP_000134.2:p.Gly167=