Canonical Allele Identifier: CA424076610
Gene: FH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.241680575A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517275A>G , CM000663.2:g.241517275A>G GRCh38
NC_000001.10:g.241680575A>G , CM000663.1:g.241680575A>G GRCh37
NC_000001.9:g.239747198A>G NCBI36
NG_012338.1:g.7480T>C , LRG_504:g.7480T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.677T>C
ENST00000682162.1:c.203T>C ENSP00000508203.1:n.203T>C
ENST00000682567.1:n.251T>C
ENST00000683521.1:c.174T>C ENSP00000506864.1:p.Gly58=
ENST00000684483.1:c.174T>C ENSP00000507894.1:p.Gly58=
ENST00000366560.4:c.174T>C MANE Select ENSP00000355518.4:p.Gly58=
ENST00000366560.3:c.174T>C ENSP00000355518.3:p.Gly58=
ENST00000493477.1:n.287T>C
NM_000143.3:c.174T>C , LRG_504t1:c.174T>C NP_000134.2:p.Gly58=
XM_011544132.1:c.-55T>C XP_011542434.1:n.-55T>C
XM_011544132.2:c.-55T>C XP_011542434.1:n.-55T>C
NM_000143.4:c.174T>C MANE Select NP_000134.2:p.Gly58=