Canonical Allele Identifier: CA3115394

Gene: FGA

Linked Data

• ClinVar Variation Id: 627216
• ClinVar RCV Id: RCV000852003 ; RCV002067219
• dbSNP Id: rs762964798
• ExAC: 4:155510651 CA / C
• gnomAD v2: 4-155510651-CA-C
• gnomAD v3: 4-154589499-CA-C
• gnomAD v4: 4-154589499-CA-C
• MyVariant Identifiers: chr4:g.155510652del (hg19) ; chr4:g.154589501del (hg38) ; chr4:g.154589500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154589501del , CM000666.2:g.154589501del	GRCh38
NC_000004.11:g.155510653del , CM000666.1:g.155510653del	GRCh37
NC_000004.10:g.155730103del	NCBI36
NG_008832.1:g.6246del , LRG_557:g.6246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651975.2:c.117del	ENSP00000498441.1:p.Val40TrpfsTer?
ENST00000403106.8:c.117del MANE Select	ENSP00000385981.3:p.Val40TrpfsTer?
ENST00000651975.1:c.117del	ENSP00000498441.1:p.Val40TrpfsTer?
ENST00000302053.7:c.117del	ENSP00000306361.3:p.Val40TrpfsTer?
ENST00000403106.7:c.117del	ENSP00000385981.3:p.Val40TrpfsTer?
ENST00000622532.1:c.117del	ENSP00000478487.1:p.Val40TrpfsTer?
NM_000508.3:c.117del , LRG_557t1:c.117del	NP_000499.1:p.Val40TrpfsTer?
NM_021871.2:c.117del , LRG_557t2:c.117del	NP_068657.1:p.Val40TrpfsTer?
NM_000508.4:c.117del	NP_000499.1:p.Val40TrpfsTer?
NM_021871.3:c.117del	NP_068657.1:p.Val40TrpfsTer?
NM_021871.4:c.117del MANE Select	NP_068657.1:p.Val40TrpfsTer?
NM_000508.5:c.117del	NP_000499.1:p.Val40TrpfsTer?