Canonical Allele Identifier: CA293626

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 24799
• ClinVar RCV Id: RCV000021679 ; RCV000128170 ; RCV000213003 ; RCV000291347 ; RCV000349756 ; RCV000679589 ; RCV001357816 ; RCV001507222 ; RCV002310631
• dbSNP Id: rs145988618
• ExAC: 18:48575160 G / A
• gnomAD v2: 18-48575160-G-A
• gnomAD v3: 18-51048790-G-A
• gnomAD v4: 18-51048790-G-A
• MyVariant Identifiers: chr18:g.48575160G>A (hg19) ; chr18:g.51048790G>A (hg38)
• PubMed: PMID:16436638 ; PMID:22875147 ; PMID:27613157

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51048790G>A , CM000680.2:g.51048790G>A	GRCh38
NC_000018.9:g.48575160G>A , CM000680.1:g.48575160G>A	GRCh37
NC_000018.8:g.46829158G>A	NCBI36
NG_013013.2:g.85751G>A , LRG_318:g.85751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.354G>A	ENSP00000465878.2:p.Ala118=
ENST00000589076.6:c.354G>A	ENSP00000466934.2:p.Ala118=
ENST00000589941.2:c.354G>A	ENSP00000465874.2:p.Ala118=
ENST00000590061.2:c.354G>A	ENSP00000464772.2:p.Ala118=
ENST00000593223.2:c.354G>A	ENSP00000466118.2:p.Ala118=
ENST00000611848.2:c.354G>A	ENSP00000478613.2:p.Ala118=
ENST00000342988.8:c.354G>A MANE Select	ENSP00000341551.3:p.Ala118=
ENST00000342988.7:c.354G>A	ENSP00000341551.3:p.Ala118=
ENST00000398417.6:c.354G>A	ENSP00000381452.1:p.Ala118=
ENST00000588745.5:c.354G>A	ENSP00000464901.1:p.Ala118=
ENST00000588860.5:c.354G>A	ENSP00000465878.1:p.Ala118=
ENST00000589706.1:n.222G>A
ENST00000589941.1:c.354G>A	ENSP00000465874.1:p.Ala118=
ENST00000590061.1:c.354G>A	ENSP00000464772.1:p.Ala118=
ENST00000590722.2:c.*377G>A	ENSP00000465737.1:n.*377G>A
ENST00000591914.5:c.354G>A	ENSP00000466941.1:p.Ala118=
ENST00000592186.5:c.354G>A	ENSP00000468611.1:p.Ala118=
ENST00000592911.5:n.132G>A
NM_005359.5:c.354G>A , LRG_318t1:c.354G>A	NP_005350.1:p.Ala118=
NM_005359.6:c.354G>A MANE Select	NP_005350.1:p.Ala118=