Canonical Allele Identifier: CA10641703

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 327200
• ClinVar RCV Id: RCV000290234 ; RCV000345230 ; RCV000397128
• dbSNP Id: rs886053930
• gnomAD v2: 18-48610413-C-G
• gnomAD v3: 18-51084043-C-G
• gnomAD v4: 18-51084043-C-G
• MyVariant Identifiers: chr18:g.48610413C>G (hg19) ; chr18:g.48610413_48610415delinsGAG (hg19) ; chr18:g.51084043C>G (hg38) ; chr18:g.51084043_51084045delinsGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084043C>G , CM000680.2:g.51084043C>G	GRCh38
NC_000018.9:g.48610413C>G , CM000680.1:g.48610413C>G	GRCh37
NC_000018.8:g.46864411C>G	NCBI36
NG_013013.2:g.121004C>G , LRG_318:g.121004C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5576C>G	ENSP00000465878.2:n.*5576C>G
ENST00000589076.6:c.*5576C>G	ENSP00000466934.2:n.*5576C>G
ENST00000589941.2:c.*5576C>G	ENSP00000465874.2:n.*5576C>G
ENST00000590061.2:c.*5576C>G	ENSP00000464772.2:n.*5576C>G
ENST00000688574.1:n.7343C>G
ENST00000342988.8:c.*5576C>G MANE Select	ENSP00000341551.3:n.*5576C>G
ENST00000342988.7:c.*5576C>G	ENSP00000341551.3:n.*5576C>G
ENST00000398417.6:c.*5576C>G	ENSP00000381452.1:n.*5576C>G
NM_005359.5:c.*5576C>G , LRG_318t1:c.*5576C>G	NP_005350.1:n.*5576C>G
NM_005359.6:c.*5576C>G MANE Select	NP_005350.1:n.*5576C>G