Canonical Allele Identifier: CA629588586

Gene: SMAD4

Linked Data

• dbSNP Id: rs1418357062
• gnomAD v2: 18-48593591-T-TAAAG
• gnomAD v3: 18-51067221-T-TAAAG
• gnomAD v4: 18-51067221-T-TAAAG
• MyVariant Identifiers: chr18:g.48593591_48593592insAAAG (hg19) ; chr18:g.51067221_51067222insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067222_51067225dup , CM000680.2:g.51067222_51067225dup	GRCh38
NC_000018.9:g.48593592_48593595dup , CM000680.1:g.48593592_48593595dup	GRCh37
NC_000018.8:g.46847590_46847593dup	NCBI36
NG_013013.2:g.104183_104186dup , LRG_318:g.104183_104186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+35_1308+38dup	ENSP00000465878.2:n.1308+35_1308+38dup
ENST00000589076.6:c.1308+35_1308+38dup	ENSP00000466934.2:n.1308+35_1308+38dup
ENST00000589941.2:c.1308+35_1308+38dup	ENSP00000465874.2:n.1308+35_1308+38dup
ENST00000590061.2:c.1308+35_1308+38dup	ENSP00000464772.2:n.1308+35_1308+38dup
ENST00000593223.2:c.1308+35_1308+38dup	ENSP00000466118.2:n.1308+35_1308+38dup
ENST00000611848.2:c.1308+35_1308+38dup	ENSP00000478613.2:n.1308+35_1308+38dup
ENST00000684953.1:n.2680+35_2680+38dup
ENST00000685090.1:n.1759+35_1759+38dup
ENST00000685232.1:n.1416+35_1416+38dup
ENST00000688574.1:n.1416+35_1416+38dup
ENST00000691124.1:n.2790+35_2790+38dup
ENST00000342988.8:c.1308+35_1308+38dup MANE Select	ENSP00000341551.3:n.1308+35_1308+38dup
ENST00000342988.7:c.1308+35_1308+38dup	ENSP00000341551.3:n.1308+35_1308+38dup
ENST00000398417.6:c.1308+35_1308+38dup	ENSP00000381452.1:n.1308+35_1308+38dup
ENST00000588745.5:c.1020+35_1020+38dup	ENSP00000464901.1:n.1020+35_1020+38dup
ENST00000590499.1:n.366+35_366+38dup
ENST00000591126.5:n.3309+35_3309+38dup
ENST00000592186.5:c.955+7306_955+7309dup	ENSP00000468611.1:n.955+7306_955+7309dup
ENST00000593223.1:c.75+35_75+38dup	ENSP00000466118.1:n.75+35_75+38dup
ENST00000611848.1:c.508+35_508+38dup
NM_005359.5:c.1308+35_1308+38dup , LRG_318t1:c.1308+35_1308+38dup	NP_005350.1:n.1308+35_1308+38dup
NM_005359.6:c.1308+35_1308+38dup MANE Select	NP_005350.1:n.1308+35_1308+38dup