Canonical Allele Identifier: CA402465972

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460540
• ClinVar RCV Id: RCV002231359
• dbSNP Id: rs1555687578
• MyVariant Identifiers: chr18:g.48604712G>A (hg19) ; chr18:g.51078342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078342G>A , CM000680.2:g.51078342G>A	GRCh38
NC_000018.9:g.48604712G>A , CM000680.1:g.48604712G>A	GRCh37
NC_000018.8:g.46858710G>A	NCBI36
NG_013013.2:g.115303G>A , LRG_318:g.115303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1534G>A	ENSP00000465878.2:p.Asp512Asn
ENST00000589076.6:c.1534G>A	ENSP00000466934.2:p.Asp512Asn
ENST00000589941.2:c.1534G>A	ENSP00000465874.2:p.Asp512Asn
ENST00000590061.2:c.1534G>A	ENSP00000464772.2:p.Asp512Asn
ENST00000593223.2:c.*1531G>A	ENSP00000466118.2:n.*1531G>A
ENST00000611848.2:c.*186G>A	ENSP00000478613.2:n.*186G>A
ENST00000684953.1:n.3549G>A
ENST00000685090.1:n.3464G>A
ENST00000685232.1:n.1755G>A
ENST00000688574.1:n.1642G>A
ENST00000691124.1:n.4495G>A
ENST00000342988.8:c.1534G>A MANE Select	ENSP00000341551.3:p.Asp512Asn
ENST00000342988.7:c.1534G>A	ENSP00000341551.3:p.Asp512Asn
ENST00000398417.6:c.1534G>A	ENSP00000381452.1:p.Asp512Asn
ENST00000586253.1:n.256G>A
ENST00000588745.5:c.1246G>A	ENSP00000464901.1:p.Asp416Asn
ENST00000591126.5:n.3535G>A
ENST00000592186.5:c.1181G>A	ENSP00000468611.1:n.1181G>A
ENST00000611848.1:c.847G>A
NM_005359.5:c.1534G>A , LRG_318t1:c.1534G>A	NP_005350.1:p.Asp512Asn
NM_005359.6:c.1534G>A MANE Select	NP_005350.1:p.Asp512Asn