Canonical Allele Identifier: CA8966110

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 413437
• ClinVar RCV Id: RCV001284065 ; RCV001420984 ; RCV002311780
• dbSNP Id: rs549489716
• ExAC: 18:48604810 G / A
• gnomAD v2: 18-48604810-G-A
• gnomAD v3: 18-51078440-G-A
• gnomAD v4: 18-51078440-G-A
• MyVariant Identifiers: chr18:g.48604810G>A (hg19) ; chr18:g.51078440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078440G>A , CM000680.2:g.51078440G>A	GRCh38
NC_000018.9:g.48604810G>A , CM000680.1:g.48604810G>A	GRCh37
NC_000018.8:g.46858808G>A	NCBI36
NG_013013.2:g.115401G>A , LRG_318:g.115401G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1632G>A	ENSP00000465878.2:p.Pro544=
ENST00000589076.6:c.1632G>A	ENSP00000466934.2:p.Pro544=
ENST00000589941.2:c.1632G>A	ENSP00000465874.2:p.Pro544=
ENST00000590061.2:c.1632G>A	ENSP00000464772.2:p.Pro544=
ENST00000593223.2:c.*1629G>A	ENSP00000466118.2:n.*1629G>A
ENST00000611848.2:c.*284G>A	ENSP00000478613.2:n.*284G>A
ENST00000684953.1:n.3647G>A
ENST00000685090.1:n.3562G>A
ENST00000685232.1:n.1853G>A
ENST00000688574.1:n.1740G>A
ENST00000691124.1:n.4593G>A
ENST00000342988.8:c.1632G>A MANE Select	ENSP00000341551.3:p.Pro544=
ENST00000342988.7:c.1632G>A	ENSP00000341551.3:p.Pro544=
ENST00000398417.6:c.1632G>A	ENSP00000381452.1:p.Pro544=
ENST00000586253.1:n.354G>A
ENST00000588745.5:c.1344G>A	ENSP00000464901.1:p.Pro448=
ENST00000591126.5:n.3633G>A
ENST00000592186.5:c.1279G>A	ENSP00000468611.1:n.1279G>A
ENST00000611848.1:c.945G>A
NM_005359.5:c.1632G>A , LRG_318t1:c.1632G>A	NP_005350.1:p.Pro544=
NM_005359.6:c.1632G>A MANE Select	NP_005350.1:p.Pro544=