Canonical Allele Identifier: CA3115349
Gene: FGA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154588913T>G
GRCh37 chr4:g.155510065T>G
Revel Score:
ENST00000302053 0.589
ENST00000403106 (MANE Select) 0.589
ENST00000457487 0.589
gnomAD v2:
4:155510065 T / G
gnomAD v3:
4:154588913 T / G
gnomAD v4:
chr4-154588913-T-G
Joint Max Group AF 0.00030274 (NFE)
Genomes Max Group AF 0.00048163 (NFE)
Exomes Max Group AF 0.00028348 (NFE)
ClinVar RCV:
RCV000344051
RCV000404726
ClinVar Variation:
347822
dbSNP:
199554805
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154588913T>G , CM000666.2:g.154588913T>G GRCh38
NC_000004.11:g.155510065T>G , CM000666.1:g.155510065T>G GRCh37
NC_000004.10:g.155729515T>G NCBI36
NG_008832.1:g.6833A>C , LRG_557:g.6833A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.244A>C ENSP00000498441.1:p.Thr82Pro
ENST00000403106.8:c.244A>C MANE Select ENSP00000385981.3:p.Thr82Pro
ENST00000651975.1:c.244A>C ENSP00000498441.1:p.Thr82Pro
ENST00000302053.7:c.244A>C ENSP00000306361.3:p.Thr82Pro
ENST00000403106.7:c.244A>C ENSP00000385981.3:p.Thr82Pro
ENST00000622532.1:c.244A>C ENSP00000478487.1:p.Thr82Pro
NM_000508.3:c.244A>C , LRG_557t1:c.244A>C NP_000499.1:p.Thr82Pro
NM_021871.2:c.244A>C , LRG_557t2:c.244A>C NP_068657.1:p.Thr82Pro
NM_000508.4:c.244A>C NP_000499.1:p.Thr82Pro
NM_021871.3:c.244A>C NP_068657.1:p.Thr82Pro
NM_021871.4:c.244A>C MANE Select NP_068657.1:p.Thr82Pro
NM_000508.5:c.244A>C NP_000499.1:p.Thr82Pro
Search 100 bp 5'
Search 100 bp 3'