Canonical Allele Identifier: CA8965842

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 484795
• ClinVar RCV Id: RCV000986027 ; RCV001370742 ; RCV002311911 ; RCV004001082 ; RCV003584663
• dbSNP Id: rs770461626
• ExAC: 18:48581360 A / G
• gnomAD v2: 18-48581360-A-G
• MyVariant Identifiers: chr18:g.48581360A>G (hg19) ; chr18:g.51054990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054990A>G , CM000680.2:g.51054990A>G	GRCh38
NC_000018.9:g.48581360A>G , CM000680.1:g.48581360A>G	GRCh37
NC_000018.8:g.46835358A>G	NCBI36
NG_013013.2:g.91951A>G , LRG_318:g.91951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.664A>G	ENSP00000465878.2:p.Thr222Ala
ENST00000589076.6:c.664A>G	ENSP00000466934.2:p.Thr222Ala
ENST00000589941.2:c.664A>G	ENSP00000465874.2:p.Thr222Ala
ENST00000590061.2:c.664A>G	ENSP00000464772.2:p.Thr222Ala
ENST00000593223.2:c.664A>G	ENSP00000466118.2:p.Thr222Ala
ENST00000611848.2:c.664A>G	ENSP00000478613.2:p.Thr222Ala
ENST00000684953.1:n.2036A>G
ENST00000688307.1:n.152A>G
ENST00000342988.8:c.664A>G MANE Select	ENSP00000341551.3:p.Thr222Ala
ENST00000342988.7:c.664A>G	ENSP00000341551.3:p.Thr222Ala
ENST00000398417.6:c.664A>G	ENSP00000381452.1:p.Thr222Ala
ENST00000588745.5:c.664A>G	ENSP00000464901.1:p.Thr222Ala
ENST00000590722.2:c.*840A>G	ENSP00000465737.1:n.*840A>G
ENST00000591126.5:n.2665A>G
ENST00000592186.5:c.664A>G	ENSP00000468611.1:p.Thr222Ala
ENST00000592911.5:n.442A>G
NM_005359.5:c.664A>G , LRG_318t1:c.664A>G	NP_005350.1:p.Thr222Ala
NM_005359.6:c.664A>G MANE Select	NP_005350.1:p.Thr222Ala