Canonical Allele Identifier: CA358523996
Gene: FGA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154584548A>G
GRCh37 chr4:g.155505700A>G
Revel Score:
ENST00000302053 0.930
gnomAD v4:
chr4-154584548-A-G
Joint Max Group AF 0.00005818 (MID)
Exomes Max Group AF 0.00006092 (MID)
ClinVar RCV:
RCV004393924
ClinVar Variation:
3094587
dbSNP:
1730662429
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154584548A>G , CM000666.2:g.154584548A>G GRCh38
NC_000004.11:g.155505700A>G , CM000666.1:g.155505700A>G GRCh37
NC_000004.10:g.155725150A>G NCBI36
NG_008832.1:g.11198T>C , LRG_557:g.11198T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.2177T>C ENSP00000498441.1:p.Val726Ala
ENST00000651975.1:c.2177T>C ENSP00000498441.1:p.Val726Ala
ENST00000302053.7:c.2177T>C ENSP00000306361.3:p.Val726Ala
NM_000508.3:c.2177T>C , LRG_557t1:c.2177T>C NP_000499.1:p.Val726Ala
NM_000508.4:c.2177T>C NP_000499.1:p.Val726Ala
NM_000508.5:c.2177T>C NP_000499.1:p.Val726Ala
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