Canonical Allele Identifier: CA2641838670

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51066915-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51066917_51066918dup , CM000680.2:g.51066917_51066918dup	GRCh38
NC_000018.9:g.48593287_48593288dup , CM000680.1:g.48593287_48593288dup	GRCh37
NC_000018.8:g.46847285_46847286dup	NCBI36
NG_013013.2:g.103878_103879dup , LRG_318:g.103878_103879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-102_1140-101dup	ENSP00000465878.2:n.1140-102_1140-101dup
ENST00000589076.6:c.1140-102_1140-101dup	ENSP00000466934.2:n.1140-102_1140-101dup
ENST00000589941.2:c.1140-102_1140-101dup	ENSP00000465874.2:n.1140-102_1140-101dup
ENST00000590061.2:c.1140-102_1140-101dup	ENSP00000464772.2:n.1140-102_1140-101dup
ENST00000593223.2:c.1140-102_1140-101dup	ENSP00000466118.2:n.1140-102_1140-101dup
ENST00000611848.2:c.1140-102_1140-101dup	ENSP00000478613.2:n.1140-102_1140-101dup
ENST00000684953.1:n.2512-102_2512-101dup
ENST00000685090.1:n.1591-102_1591-101dup
ENST00000685232.1:n.1248-102_1248-101dup
ENST00000688574.1:n.1248-102_1248-101dup
ENST00000691124.1:n.2622-102_2622-101dup
ENST00000342988.8:c.1140-102_1140-101dup MANE Select	ENSP00000341551.3:n.1140-102_1140-101dup
ENST00000342988.7:c.1140-102_1140-101dup	ENSP00000341551.3:n.1140-102_1140-101dup
ENST00000398417.6:c.1140-102_1140-101dup	ENSP00000381452.1:n.1140-102_1140-101dup
ENST00000588745.5:c.852-102_852-101dup	ENSP00000464901.1:n.852-102_852-101dup
ENST00000590499.1:n.96_97dup
ENST00000591126.5:n.3141-102_3141-101dup
ENST00000592186.5:c.955+7001_955+7002dup	ENSP00000468611.1:n.955+7001_955+7002dup
ENST00000611848.1:c.340-102_340-101dup
NM_005359.5:c.1140-102_1140-101dup , LRG_318t1:c.1140-102_1140-101dup	NP_005350.1:n.1140-102_1140-101dup
NM_005359.6:c.1140-102_1140-101dup MANE Select	NP_005350.1:n.1140-102_1140-101dup