Canonical Allele Identifier: CA16620708

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 422185
• ClinVar RCV Id: RCV000483281 ; RCV002056799
• dbSNP Id: rs1064795613
• MyVariant Identifiers: chr18:g.48593353_48593370del (hg19) ; chr18:g.51066983_51067000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51066983_51067000del , CM000680.2:g.51066983_51067000del	GRCh38
NC_000018.9:g.48593353_48593370del , CM000680.1:g.48593353_48593370del	GRCh37
NC_000018.8:g.46847351_46847368del	NCBI36
NG_013013.2:g.103944_103961del , LRG_318:g.103944_103961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-36_1140-19del	ENSP00000465878.2:n.1140-36_1140-19del
ENST00000589076.6:c.1140-36_1140-19del	ENSP00000466934.2:n.1140-36_1140-19del
ENST00000589941.2:c.1140-36_1140-19del	ENSP00000465874.2:n.1140-36_1140-19del
ENST00000590061.2:c.1140-36_1140-19del	ENSP00000464772.2:n.1140-36_1140-19del
ENST00000593223.2:c.1140-36_1140-19del	ENSP00000466118.2:n.1140-36_1140-19del
ENST00000611848.2:c.1140-36_1140-19del	ENSP00000478613.2:n.1140-36_1140-19del
ENST00000684953.1:n.2512-36_2512-19del
ENST00000685090.1:n.1591-36_1591-19del
ENST00000685232.1:n.1248-36_1248-19del
ENST00000688574.1:n.1248-36_1248-19del
ENST00000691124.1:n.2622-36_2622-19del
ENST00000342988.8:c.1140-36_1140-19del MANE Select	ENSP00000341551.3:n.1140-36_1140-19del
ENST00000342988.7:c.1140-36_1140-19del	ENSP00000341551.3:n.1140-36_1140-19del
ENST00000398417.6:c.1140-36_1140-19del	ENSP00000381452.1:n.1140-36_1140-19del
ENST00000588745.5:c.852-36_852-19del	ENSP00000464901.1:n.852-36_852-19del
ENST00000590499.1:n.162_179del
ENST00000591126.5:n.3141-36_3141-19del
ENST00000592186.5:c.955+7067_955+7084del	ENSP00000468611.1:n.955+7067_955+7084del
ENST00000611848.1:c.340-36_340-19del
NM_005359.5:c.1140-36_1140-19del , LRG_318t1:c.1140-36_1140-19del	NP_005350.1:n.1140-36_1140-19del
NM_005359.6:c.1140-36_1140-19del MANE Select	NP_005350.1:n.1140-36_1140-19del