Canonical Allele Identifier: CA16608752

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 382523
• ClinVar RCV Id: RCV001703717 ; RCV002257674
• dbSNP Id: rs746840014
• gnomAD v2: 18-48573287-T-A
• gnomAD v3: 18-51046917-T-A
• gnomAD v4: 18-51046917-T-A
• MyVariant Identifiers: chr18:g.48573287T>A (hg19) ; chr18:g.48573287_48573290delinsAAGG (hg19) ; chr18:g.51046917T>A (hg38) ; chr18:g.51046917_51046920delinsAAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51046917T>A , CM000680.2:g.51046917T>A	GRCh38
NC_000018.9:g.48573287T>A , CM000680.1:g.48573287T>A	GRCh37
NC_000018.8:g.46827285T>A	NCBI36
NG_013013.2:g.83878T>A , LRG_318:g.83878T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.-127-3T>A	ENSP00000465878.2:n.-127-3T>A
ENST00000589076.6:c.-127-3T>A	ENSP00000466934.2:n.-127-3T>A
ENST00000589941.2:c.-127-3T>A	ENSP00000465874.2:n.-127-3T>A
ENST00000590061.2:c.-59-71T>A	ENSP00000464772.2:n.-59-71T>A
ENST00000593223.2:c.-127-3T>A	ENSP00000466118.2:n.-127-3T>A
ENST00000342988.8:c.-127-3T>A MANE Select	ENSP00000341551.3:n.-127-3T>A
ENST00000342988.7:c.-127-3T>A	ENSP00000341551.3:n.-127-3T>A
ENST00000398417.6:c.-127-3T>A	ENSP00000381452.1:n.-127-3T>A
ENST00000588256.1:n.335-3T>A
ENST00000588860.5:c.-127-3T>A	ENSP00000465878.1:n.-127-3T>A
ENST00000589076.5:c.-127-3T>A	ENSP00000466934.1:n.-127-3T>A
ENST00000589941.1:c.-127-3T>A	ENSP00000465874.1:n.-127-3T>A
ENST00000590061.1:c.-59-71T>A	ENSP00000464772.1:n.-59-71T>A
ENST00000590722.2:c.158-3T>A	ENSP00000465737.1:n.158-3T>A
ENST00000591914.5:c.-127-3T>A	ENSP00000466941.1:n.-127-3T>A
ENST00000592911.5:n.28-1769T>A
NM_005359.5:c.-127-3T>A , LRG_318t1:c.-127-3T>A	NP_005350.1:n.-127-3T>A
NM_005359.6:c.-127-3T>A MANE Select	NP_005350.1:n.-127-3T>A