Canonical Allele Identifier: CA8965987

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1730487
• ClinVar RCV Id: RCV002320955 ; RCV003585251 ; RCV003763108
• dbSNP Id: rs745878382
• ExAC: 18:48591976 G / GGTAT
• gnomAD v2: 18-48591976-G-GGTAT
• gnomAD v4: 18-51065606-G-GGTAT
• MyVariant Identifiers: chr18:g.48591976_48591977insGTAT (hg19) ; chr18:g.51065606_51065607insGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065607_51065610dup , CM000680.2:g.51065607_51065610dup	GRCh38
NC_000018.9:g.48591977_48591980dup , CM000680.1:g.48591977_48591980dup	GRCh37
NC_000018.8:g.46845975_46845978dup	NCBI36
NG_013013.2:g.102568_102571dup , LRG_318:g.102568_102571dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+1_1139+4dup	ENSP00000465878.2:n.1139+1_1139+4dup
ENST00000589076.6:c.1139+1_1139+4dup	ENSP00000466934.2:n.1139+1_1139+4dup
ENST00000589941.2:c.1139+1_1139+4dup	ENSP00000465874.2:n.1139+1_1139+4dup
ENST00000590061.2:c.1139+1_1139+4dup	ENSP00000464772.2:n.1139+1_1139+4dup
ENST00000593223.2:c.1139+1_1139+4dup	ENSP00000466118.2:n.1139+1_1139+4dup
ENST00000611848.2:c.1139+1_1139+4dup	ENSP00000478613.2:n.1139+1_1139+4dup
ENST00000684953.1:n.2511+1_2511+4dup
ENST00000685090.1:n.1590+1_1590+4dup
ENST00000685232.1:n.1247+1_1247+4dup
ENST00000688307.1:n.391_394dup
ENST00000688574.1:n.1247+1_1247+4dup
ENST00000688903.1:n.1354_1357dup
ENST00000691124.1:n.2621+1_2621+4dup
ENST00000342988.8:c.1139+1_1139+4dup MANE Select	ENSP00000341551.3:n.1139+1_1139+4dup
ENST00000342988.7:c.1139+1_1139+4dup	ENSP00000341551.3:n.1139+1_1139+4dup
ENST00000398417.6:c.1139+1_1139+4dup	ENSP00000381452.1:n.1139+1_1139+4dup
ENST00000588745.5:c.851+1_851+4dup	ENSP00000464901.1:n.851+1_851+4dup
ENST00000591126.5:n.3140+1_3140+4dup
ENST00000592186.5:c.955+5691_955+5694dup	ENSP00000468611.1:n.955+5691_955+5694dup
ENST00000611848.1:c.339+1_339+4dup
NM_005359.5:c.1139+1_1139+4dup , LRG_318t1:c.1139+1_1139+4dup	NP_005350.1:n.1139+1_1139+4dup
NM_005359.6:c.1139+1_1139+4dup MANE Select	NP_005350.1:n.1139+1_1139+4dup