Canonical Allele Identifier: CA358535129
Gene: FGG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154604896C>G , CM000666.2:g.154604896C>G GRCh38
NC_000004.11:g.155526048C>G , CM000666.1:g.155526048C>G GRCh37
NC_000004.10:g.155745498C>G NCBI36
NG_008834.1:g.12855G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1300G>C MANE Select ENSP00000336829.3:p.Val434Leu
ENST00000336098.7:c.1300G>C ENSP00000336829.3:p.Val434Leu
ENST00000404648.7:c.1299+1G>C ENSP00000384860.3:n.1299+1G>C
ENST00000405164.5:c.1323+1G>C ENSP00000384101.1:n.1323+1G>C
ENST00000407946.5:c.1324G>C ENSP00000384552.1:p.Val442Leu
ENST00000465913.1:n.848G>C
ENST00000492082.5:n.1841+1G>C
NM_000509.4:c.1299+1G>C NP_000500.2:n.1299+1G>C
NM_000509.5:c.1299+1G>C NP_000500.2:n.1299+1G>C
NM_021870.2:c.1300G>C NP_068656.2:p.Val434Leu
NM_021870.3:c.1300G>C MANE Select NP_068656.2:p.Val434Leu
NM_000509.6:c.1299+1G>C NP_000500.2:n.1299+1G>C