Canonical Allele Identifier: CA402465980

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2120313
• ClinVar RCV Id: RCV003059319
• MyVariant Identifiers: chr18:g.48604715T>A (hg19) ; chr18:g.51078345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078345T>A , CM000680.2:g.51078345T>A	GRCh38
NC_000018.9:g.48604715T>A , CM000680.1:g.48604715T>A	GRCh37
NC_000018.8:g.46858713T>A	NCBI36
NG_013013.2:g.115306T>A , LRG_318:g.115306T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1537T>A	ENSP00000465878.2:p.Tyr513Asn
ENST00000589076.6:c.1537T>A	ENSP00000466934.2:p.Tyr513Asn
ENST00000589941.2:c.1537T>A	ENSP00000465874.2:p.Tyr513Asn
ENST00000590061.2:c.1537T>A	ENSP00000464772.2:p.Tyr513Asn
ENST00000593223.2:c.*1534T>A	ENSP00000466118.2:n.*1534T>A
ENST00000611848.2:c.*189T>A	ENSP00000478613.2:n.*189T>A
ENST00000684953.1:n.3552T>A
ENST00000685090.1:n.3467T>A
ENST00000685232.1:n.1758T>A
ENST00000688574.1:n.1645T>A
ENST00000691124.1:n.4498T>A
ENST00000342988.8:c.1537T>A MANE Select	ENSP00000341551.3:p.Tyr513Asn
ENST00000342988.7:c.1537T>A	ENSP00000341551.3:p.Tyr513Asn
ENST00000398417.6:c.1537T>A	ENSP00000381452.1:p.Tyr513Asn
ENST00000586253.1:n.259T>A
ENST00000588745.5:c.1249T>A	ENSP00000464901.1:p.Tyr417Asn
ENST00000591126.5:n.3538T>A
ENST00000592186.5:c.1184T>A	ENSP00000468611.1:n.1184T>A
ENST00000611848.1:c.850T>A
NM_005359.5:c.1537T>A , LRG_318t1:c.1537T>A	NP_005350.1:p.Tyr513Asn
NM_005359.6:c.1537T>A MANE Select	NP_005350.1:p.Tyr513Asn