Canonical Allele Identifier: CA126515
Gene: FGA HGNC NCBI
COSMIC:
COSM1131211 (not active)
COSM3927813 (not active)
MyVariant.info:
GRCh38 chr4:g.154586438T>C
GRCh37 chr4:g.155507590T>C
Revel Score:
ENST00000302053 0.092
ENST00000403106 (MANE Select) 0.092
gnomAD v2:
4:155507590 T / C
gnomAD v3:
4:154586438 T / C
gnomAD v4:
chr4-154586438-T-C
Joint Max Group AF 0.45957588 (EAS)
Genomes Max Group AF 0.42991578 (EAS)
Exomes Max Group AF 0.46177594 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154586438T>C , CM000666.2:g.154586438T>C GRCh38
NC_000004.11:g.155507590T>C , CM000666.1:g.155507590T>C GRCh37
NC_000004.10:g.155727040T>C NCBI36
NG_008832.1:g.9308A>G , LRG_557:g.9308A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.991A>G ENSP00000498441.1:p.Thr331Ala
ENST00000403106.8:c.991A>G MANE Select ENSP00000385981.3:p.Thr331Ala
ENST00000651975.1:c.991A>G ENSP00000498441.1:p.Thr331Ala
ENST00000302053.7:c.991A>G ENSP00000306361.3:p.Thr331Ala
ENST00000403106.7:c.991A>G ENSP00000385981.3:p.Thr331Ala
ENST00000622532.1:c.643+348A>G ENSP00000478487.1:n.643+348A>G
NM_000508.3:c.991A>G , LRG_557t1:c.991A>G NP_000499.1:p.Thr331Ala
NM_021871.2:c.991A>G , LRG_557t2:c.991A>G NP_068657.1:p.Thr331Ala
NM_000508.4:c.991A>G NP_000499.1:p.Thr331Ala
NM_021871.3:c.991A>G NP_068657.1:p.Thr331Ala
NM_021871.4:c.991A>G MANE Select NP_068657.1:p.Thr331Ala
NM_000508.5:c.991A>G NP_000499.1:p.Thr331Ala
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