Canonical Allele Identifier: CA126510
Community Standard Title: NM_021871.4(FGA):c.1039C>T (p.Gln347Ter)
Gene: FGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154586390G>A , CM000666.2:g.154586390G>A GRCh38
NC_000004.11:g.155507542G>A , CM000666.1:g.155507542G>A GRCh37
NC_000004.10:g.155726992G>A NCBI36
NG_008832.1:g.9356C>T , LRG_557:g.9356C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021871.4:c.1039C>T MANE Select NP_068657.1:p.Gln347Ter
ENST00000403106.8:c.1039C>T MANE Select ENSP00000385981.3:p.Gln347Ter
NM_000508.3:c.1039C>T , LRG_557t1:c.1039C>T NP_000499.1:p.Gln347Ter
NM_000508.4:c.1039C>T NP_000499.1:p.Gln347Ter
NM_000508.5:c.1039C>T NP_000499.1:p.Gln347Ter
NM_021871.2:c.1039C>T , LRG_557t2:c.1039C>T NP_068657.1:p.Gln347Ter
NM_021871.3:c.1039C>T NP_068657.1:p.Gln347Ter
ENST00000302053.7:c.1039C>T ENSP00000306361.3:p.Gln347Ter
ENST00000403106.7:c.1039C>T ENSP00000385981.3:p.Gln347Ter
ENST00000622532.1:c.643+396C>T ENSP00000478487.1:n.643+396C>T
ENST00000651975.1:c.1039C>T ENSP00000498441.1:p.Gln347Ter
ENST00000651975.2:c.1039C>T ENSP00000498441.1:p.Gln347Ter