Canonical Allele Identifier: CA3115719
Community Standard Title: NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
Gene: FGG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154612185G>A , CM000666.2:g.154612185G>A GRCh38
NC_000004.11:g.155533337G>A , CM000666.1:g.155533337G>A GRCh37
NC_000004.10:g.155752787G>A NCBI36
NG_008834.1:g.5566C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021870.3:c.140C>T MANE Select NP_068656.2:p.Thr47Ile
ENST00000336098.8:c.140C>T MANE Select ENSP00000336829.3:p.Thr47Ile
NM_000509.4:c.140C>T NP_000500.2:p.Thr47Ile
NM_000509.5:c.140C>T NP_000500.2:p.Thr47Ile
NM_000509.6:c.140C>T NP_000500.2:p.Thr47Ile
NM_021870.2:c.140C>T NP_068656.2:p.Thr47Ile
ENST00000336098.7:c.140C>T ENSP00000336829.3:p.Thr47Ile
ENST00000393846.6:c.-170C>T ENSP00000377429.2:n.-170C>T
ENST00000404648.7:c.140C>T ENSP00000384860.3:p.Thr47Ile
ENST00000405164.5:c.140C>T ENSP00000384101.1:p.Thr47Ile
ENST00000407946.5:c.140C>T ENSP00000384552.1:p.Thr47Ile
ENST00000443553.5:c.-152-18C>T ENSP00000407562.1:n.-152-18C>T
ENST00000464532.5:n.187C>T
ENST00000465336.1:n.376C>T
ENST00000473393.5:n.166C>T
ENST00000484695.1:n.142C>T
ENST00000492082.5:n.379C>T