Canonical Allele Identifier: CA259214

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1788057
• ClinVar RCV Id: RCV002428202
• dbSNP Id: rs377767349
• MyVariant Identifiers: chr18:g.48591925_48591927del (hg19) ; chr18:g.51065555_51065557del (hg38)
• PubMed: PMID:16436638

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065555_51065557del , CM000680.2:g.51065555_51065557del	GRCh38
NC_000018.9:g.48591925_48591927del , CM000680.1:g.48591925_48591927del	GRCh37
NC_000018.8:g.46845923_46845925del	NCBI36
NG_013013.2:g.102516_102518del , LRG_318:g.102516_102518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1088_1090del	ENSP00000465878.2:p.Cys363del
ENST00000589076.6:c.1088_1090del	ENSP00000466934.2:p.Cys363del
ENST00000589941.2:c.1088_1090del	ENSP00000465874.2:p.Cys363del
ENST00000590061.2:c.1088_1090del	ENSP00000464772.2:p.Cys363del
ENST00000593223.2:c.1088_1090del	ENSP00000466118.2:p.Cys363del
ENST00000611848.2:c.1088_1090del	ENSP00000478613.2:p.Cys363del
ENST00000684953.1:n.2460_2462del
ENST00000685090.1:n.1539_1541del
ENST00000685232.1:n.1196_1198del
ENST00000688307.1:n.339_341del
ENST00000688574.1:n.1196_1198del
ENST00000688903.1:n.1302_1304del
ENST00000691124.1:n.2570_2572del
ENST00000342988.8:c.1088_1090del MANE Select	ENSP00000341551.3:p.Cys363del
ENST00000342988.7:c.1088_1090del	ENSP00000341551.3:p.Cys363del
ENST00000398417.6:c.1088_1090del	ENSP00000381452.1:p.Cys363del
ENST00000588745.5:c.800_802del	ENSP00000464901.1:p.Cys267del
ENST00000591126.5:n.3089_3091del
ENST00000592186.5:c.955+5639_955+5641del	ENSP00000468611.1:n.955+5639_955+5641del
ENST00000611848.1:c.288_290del
NM_005359.5:c.1088_1090del , LRG_318t1:c.1088_1090del	NP_005350.1:p.Cys363del
NM_005359.6:c.1088_1090del MANE Select	NP_005350.1:p.Cys363del