Canonical Allele Identifier: CA299973

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 182873
• ClinVar RCV Id: RCV000160965 ; RCV001052787
• dbSNP Id: rs730881956
• MyVariant Identifiers: chr18:g.48593507_48593508dupCG (hg19) ; chr18:g.51067137_51067138dupCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067137_51067138dup , CM000680.2:g.51067137_51067138dup	GRCh38
NC_000018.9:g.48593507_48593508dup , CM000680.1:g.48593507_48593508dup	GRCh37
NC_000018.8:g.46847505_46847506dup	NCBI36
NG_013013.2:g.104098_104099dup , LRG_318:g.104098_104099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1258_1259dup	ENSP00000465878.2:p.Ala421ValfsTer16
ENST00000589076.6:c.1258_1259dup	ENSP00000466934.2:p.Ala421ValfsTer16
ENST00000589941.2:c.1258_1259dup	ENSP00000465874.2:p.Ala421ValfsTer16
ENST00000590061.2:c.1258_1259dup	ENSP00000464772.2:p.Ala421ValfsTer16
ENST00000593223.2:c.1258_1259dup	ENSP00000466118.2:p.Ala421ValfsTer16
ENST00000611848.2:c.1258_1259dup	ENSP00000478613.2:p.Ala421ValfsTer16
ENST00000684953.1:n.2630_2631dup
ENST00000685090.1:n.1709_1710dup
ENST00000685232.1:n.1366_1367dup
ENST00000688574.1:n.1366_1367dup
ENST00000691124.1:n.2740_2741dup
ENST00000342988.8:c.1258_1259dup MANE Select	ENSP00000341551.3:p.Ala421ValfsTer16
ENST00000342988.7:c.1258_1259dup	ENSP00000341551.3:p.Ala421ValfsTer16
ENST00000398417.6:c.1258_1259dup	ENSP00000381452.1:p.Ala421ValfsTer16
ENST00000588745.5:c.970_971dup	ENSP00000464901.1:p.Ala325ValfsTer16
ENST00000590499.1:n.316_317dup
ENST00000591126.5:n.3259_3260dup
ENST00000592186.5:c.955+7221_955+7222dup	ENSP00000468611.1:n.955+7221_955+7222dup
ENST00000593223.1:c.25_26dup	ENSP00000466118.1:p.Ala10ValfsTer16
ENST00000611848.1:c.458_459dup
NM_005359.5:c.1258_1259dup , LRG_318t1:c.1258_1259dup	NP_005350.1:p.Ala421ValfsTer16
NM_005359.6:c.1258_1259dup MANE Select	NP_005350.1:p.Ala421ValfsTer16