Canonical Allele Identifier: CA658658750

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460532
• ClinVar RCV Id: RCV002316529 ; RCV002231357
• dbSNP Id: rs1555686608
• MyVariant Identifiers: chr18:g.48593477_48593478del (hg19) ; chr18:g.51067107_51067108del (hg38)
• PubMed: PMID:20685751

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067107_51067108del , CM000680.2:g.51067107_51067108del	GRCh38
NC_000018.9:g.48593477_48593478del , CM000680.1:g.48593477_48593478del	GRCh37
NC_000018.8:g.46847475_46847476del	NCBI36
NG_013013.2:g.104068_104069del , LRG_318:g.104068_104069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1228_1229del	ENSP00000465878.2:p.Gln410GlufsTer18
ENST00000589076.6:c.1228_1229del	ENSP00000466934.2:p.Gln410GlufsTer18
ENST00000589941.2:c.1228_1229del	ENSP00000465874.2:p.Gln410GlufsTer18
ENST00000590061.2:c.1228_1229del	ENSP00000464772.2:p.Gln410GlufsTer18
ENST00000593223.2:c.1228_1229del	ENSP00000466118.2:p.Gln410GlufsTer18
ENST00000611848.2:c.1228_1229del	ENSP00000478613.2:p.Gln410GlufsTer18
ENST00000684953.1:n.2600_2601del
ENST00000685090.1:n.1679_1680del
ENST00000685232.1:n.1336_1337del
ENST00000688574.1:n.1336_1337del
ENST00000691124.1:n.2710_2711del
ENST00000342988.8:c.1228_1229del MANE Select	ENSP00000341551.3:p.Gln410GlufsTer18
ENST00000342988.7:c.1228_1229del	ENSP00000341551.3:p.Gln410GlufsTer18
ENST00000398417.6:c.1228_1229del	ENSP00000381452.1:p.Gln410GlufsTer18
ENST00000588745.5:c.940_941del	ENSP00000464901.1:p.Gln314GlufsTer18
ENST00000590499.1:n.286_287del
ENST00000591126.5:n.3229_3230del
ENST00000592186.5:c.955+7191_955+7192del	ENSP00000468611.1:n.955+7191_955+7192del
ENST00000611848.1:c.428_429del
NM_005359.5:c.1228_1229del , LRG_318t1:c.1228_1229del	NP_005350.1:p.Gln410GlufsTer18
NM_005359.6:c.1228_1229del MANE Select	NP_005350.1:p.Gln410GlufsTer18