Canonical Allele Identifier: CA3114887
Gene: FGA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154584385G>T
GRCh37 chr4:g.155505537G>T
Revel Score:
ENST00000302053 0.686
gnomAD v2:
4:155505537 G / T
gnomAD v3:
4:154584385 G / T
gnomAD v4:
chr4-154584385-G-T
Joint Max Group AF 0.00037859 (SAS)
Exomes Max Group AF 0.00039053 (SAS)
ClinVar RCV:
RCV002684893
ClinVar Variation:
2385030
dbSNP:
755826305
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154584385G>T , CM000666.2:g.154584385G>T GRCh38
NC_000004.11:g.155505537G>T , CM000666.1:g.155505537G>T GRCh37
NC_000004.10:g.155724987G>T NCBI36
NG_008832.1:g.11361C>A , LRG_557:g.11361C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.2340C>A ENSP00000498441.1:p.His780Gln
ENST00000651975.1:c.2340C>A ENSP00000498441.1:p.His780Gln
ENST00000302053.7:c.2340C>A ENSP00000306361.3:p.His780Gln
NM_000508.3:c.2340C>A , LRG_557t1:c.2340C>A NP_000499.1:p.His780Gln
NM_000508.4:c.2340C>A NP_000499.1:p.His780Gln
NM_000508.5:c.2340C>A NP_000499.1:p.His780Gln
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