Canonical Allele Identifier: CA10425253

Gene: FGD1

Linked Data

• ClinVar Variation Id: 374329
• ClinVar RCV Id: RCV000415303 ; RCV000624698 ; RCV002272226
• dbSNP Id: rs756586058
• ExAC: X:54497147 TG / T
• gnomAD v3: X-54470714-TG-T
• gnomAD v4: X-54470714-TG-T
• COSMIC: COSM1468675
• MyVariant Identifiers: chrX:g.54497148del (hg19) ; chrX:g.54470715del (hg38)
• PubMed: PMID:8969170 ; PMID:11940089 ; PMID:14560308 ; PMID:15809997 ; PMID:16353258 ; PMID:16688726 ; PMID:17152066 ; PMID:19110080 ; PMID:20082460 ; PMID:22211847 ; PMID:24307393

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54470722del , CM000685.2:g.54470722del	GRCh38
NC_000023.10:g.54497155del , CM000685.1:g.54497155del	GRCh37
NC_000023.9:g.54513880del	NCBI36
NG_008054.1:g.30452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.527del MANE Select	ENSP00000364277.3:p.Pro176HisfsTer?
ENST00000375135.3:c.527del	ENSP00000364277.3:p.Pro176HisfsTer?
NM_004463.2:c.527del	NP_004454.2:p.Pro176HisfsTer?
NM_004463.3:c.527del MANE Select	NP_004454.2:p.Pro176HisfsTer?