Canonical Allele Identifier: CA10641713

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 327208
• ClinVar RCV Id: RCV000306020 ; RCV000336483 ; RCV000394597
• dbSNP Id: rs78989198
• gnomAD v2: 18-48610697-CAAGAA-C
• gnomAD v3: 18-51084327-CAAGAA-C
• gnomAD v4: 18-51084327-CAAGAA-C
• COSMIC: COSN20115003 ; COSN20115004 ; COSN20115005 ; COSN20115006
• MyVariant Identifiers: chr18:g.48610700_48610704del (hg19) ; chr18:g.48610698_48610702del (hg19) ; chr18:g.51084330_51084334del (hg38) ; chr18:g.51084328_51084332del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084330_51084334del , CM000680.2:g.51084330_51084334del	GRCh38
NC_000018.9:g.48610700_48610704del , CM000680.1:g.48610700_48610704del	GRCh37
NC_000018.8:g.46864698_46864702del	NCBI36
NG_013013.2:g.121291_121295del , LRG_318:g.121291_121295del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5863_*5867del	ENSP00000465878.2:n.*5863_*5867del
ENST00000589076.6:c.*5863_*5867del	ENSP00000466934.2:n.*5863_*5867del
ENST00000589941.2:c.*5863_*5867del	ENSP00000465874.2:n.*5863_*5867del
ENST00000590061.2:c.*5863_*5867del	ENSP00000464772.2:n.*5863_*5867del
ENST00000688574.1:n.7630_7634del
ENST00000342988.8:c.*5863_*5867del MANE Select	ENSP00000341551.3:n.*5863_*5867del
ENST00000342988.7:c.*5863_*5867del	ENSP00000341551.3:n.*5863_*5867del
ENST00000398417.6:c.*5863_*5867del	ENSP00000381452.1:n.*5863_*5867del
NM_005359.5:c.*5863_*5867del , LRG_318t1:c.*5863_*5867del	NP_005350.1:n.*5863_*5867del
NM_005359.6:c.*5863_*5867del MANE Select	NP_005350.1:n.*5863_*5867del