Canonical Allele Identifier: CA402465990

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 3070003
• ClinVar RCV Id: RCV004010035
• dbSNP Id: rs1221103079
• gnomAD v2: 18-48604718-C-T
• gnomAD v3: 18-51078348-C-T
• gnomAD v4: 18-51078348-C-T
• COSMIC: COSM1711346
• MyVariant Identifiers: chr18:g.48604718C>T (hg19) ; chr18:g.51078348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078348C>T , CM000680.2:g.51078348C>T	GRCh38
NC_000018.9:g.48604718C>T , CM000680.1:g.48604718C>T	GRCh37
NC_000018.8:g.46858716C>T	NCBI36
NG_013013.2:g.115309C>T , LRG_318:g.115309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1540C>T	ENSP00000465878.2:p.Pro514Ser
ENST00000589076.6:c.1540C>T	ENSP00000466934.2:p.Pro514Ser
ENST00000589941.2:c.1540C>T	ENSP00000465874.2:p.Pro514Ser
ENST00000590061.2:c.1540C>T	ENSP00000464772.2:p.Pro514Ser
ENST00000593223.2:c.*1537C>T	ENSP00000466118.2:n.*1537C>T
ENST00000611848.2:c.*192C>T	ENSP00000478613.2:n.*192C>T
ENST00000684953.1:n.3555C>T
ENST00000685090.1:n.3470C>T
ENST00000685232.1:n.1761C>T
ENST00000688574.1:n.1648C>T
ENST00000691124.1:n.4501C>T
ENST00000342988.8:c.1540C>T MANE Select	ENSP00000341551.3:p.Pro514Ser
ENST00000342988.7:c.1540C>T	ENSP00000341551.3:p.Pro514Ser
ENST00000398417.6:c.1540C>T	ENSP00000381452.1:p.Pro514Ser
ENST00000586253.1:n.262C>T
ENST00000588745.5:c.1252C>T	ENSP00000464901.1:p.Pro418Ser
ENST00000591126.5:n.3541C>T
ENST00000592186.5:c.1187C>T	ENSP00000468611.1:n.1187C>T
ENST00000611848.1:c.853C>T
NM_005359.5:c.1540C>T , LRG_318t1:c.1540C>T	NP_005350.1:p.Pro514Ser
NM_005359.6:c.1540C>T MANE Select	NP_005350.1:p.Pro514Ser