Canonical Allele Identifier: CA402465016

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144452768
• gnomAD v4: 18-51067158-C-A
• COSMIC: COSM6475927
• MyVariant Identifiers: chr18:g.48593528C>A (hg19) ; chr18:g.51067158C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067158C>A , CM000680.2:g.51067158C>A	GRCh38
NC_000018.9:g.48593528C>A , CM000680.1:g.48593528C>A	GRCh37
NC_000018.8:g.46847526C>A	NCBI36
NG_013013.2:g.104119C>A , LRG_318:g.104119C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1279C>A	ENSP00000465878.2:p.His427Asn
ENST00000589076.6:c.1279C>A	ENSP00000466934.2:p.His427Asn
ENST00000589941.2:c.1279C>A	ENSP00000465874.2:p.His427Asn
ENST00000590061.2:c.1279C>A	ENSP00000464772.2:p.His427Asn
ENST00000593223.2:c.1279C>A	ENSP00000466118.2:p.His427Asn
ENST00000611848.2:c.1279C>A	ENSP00000478613.2:p.His427Asn
ENST00000684953.1:n.2651C>A
ENST00000685090.1:n.1730C>A
ENST00000685232.1:n.1387C>A
ENST00000688574.1:n.1387C>A
ENST00000691124.1:n.2761C>A
ENST00000342988.8:c.1279C>A MANE Select	ENSP00000341551.3:p.His427Asn
ENST00000342988.7:c.1279C>A	ENSP00000341551.3:p.His427Asn
ENST00000398417.6:c.1279C>A	ENSP00000381452.1:p.His427Asn
ENST00000588745.5:c.991C>A	ENSP00000464901.1:p.His331Asn
ENST00000590499.1:n.337C>A
ENST00000591126.5:n.3280C>A
ENST00000592186.5:c.955+7242C>A	ENSP00000468611.1:n.955+7242C>A
ENST00000593223.1:c.46C>A	ENSP00000466118.1:p.His16Asn
ENST00000611848.1:c.479C>A
NM_005359.5:c.1279C>A , LRG_318t1:c.1279C>A	NP_005350.1:p.His427Asn
NM_005359.6:c.1279C>A MANE Select	NP_005350.1:p.His427Asn