Canonical Allele Identifier: CA3115087
Gene: FGA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154586012C>T
GRCh37 chr4:g.155507164C>T
Revel Score:
ENST00000302053 0.249
ENST00000403106 (MANE Select) 0.249
gnomAD v2:
4:155507164 C / T
gnomAD v3:
4:154586012 C / T
gnomAD v4:
chr4-154586012-C-T
Joint Max Group AF 0.00061924 (NFE)
Genomes Max Group AF 0.00067701 (NFE)
Exomes Max Group AF 0.00060597 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154586012C>T , CM000666.2:g.154586012C>T GRCh38
NC_000004.11:g.155507164C>T , CM000666.1:g.155507164C>T GRCh37
NC_000004.10:g.155726614C>T NCBI36
NG_008832.1:g.9734G>A , LRG_557:g.9734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.1417G>A ENSP00000498441.1:p.Asp473Asn
ENST00000403106.8:c.1417G>A MANE Select ENSP00000385981.3:p.Asp473Asn
ENST00000651975.1:c.1417G>A ENSP00000498441.1:p.Asp473Asn
ENST00000302053.7:c.1417G>A ENSP00000306361.3:p.Asp473Asn
ENST00000403106.7:c.1417G>A ENSP00000385981.3:p.Asp473Asn
ENST00000622532.1:c.644-302G>A ENSP00000478487.1:n.644-302G>A
NM_000508.3:c.1417G>A , LRG_557t1:c.1417G>A NP_000499.1:p.Asp473Asn
NM_021871.2:c.1417G>A , LRG_557t2:c.1417G>A NP_068657.1:p.Asp473Asn
NM_000508.4:c.1417G>A NP_000499.1:p.Asp473Asn
NM_021871.3:c.1417G>A NP_068657.1:p.Asp473Asn
NM_021871.4:c.1417G>A MANE Select NP_068657.1:p.Asp473Asn
NM_000508.5:c.1417G>A NP_000499.1:p.Asp473Asn
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