Canonical Allele Identifier: CA8966042

Gene: SMAD4

Linked Data

• dbSNP Id: rs768865165
• ExAC: 18:48593574 T / TC
• gnomAD v2: 18-48593574-T-TC
• MyVariant Identifiers: chr18:g.48593574_48593575insC (hg19) ; chr18:g.51067204_51067205insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067204_51067205insC , CM000680.2:g.51067204_51067205insC	GRCh38
NC_000018.9:g.48593574_48593575insC , CM000680.1:g.48593574_48593575insC	GRCh37
NC_000018.8:g.46847572_46847573insC	NCBI36
NG_013013.2:g.104165_104166insC , LRG_318:g.104165_104166insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+17_1308+18insC	ENSP00000465878.2:n.1308+17_1308+18insC
ENST00000589076.6:c.1308+17_1308+18insC	ENSP00000466934.2:n.1308+17_1308+18insC
ENST00000589941.2:c.1308+17_1308+18insC	ENSP00000465874.2:n.1308+17_1308+18insC
ENST00000590061.2:c.1308+17_1308+18insC	ENSP00000464772.2:n.1308+17_1308+18insC
ENST00000593223.2:c.1308+17_1308+18insC	ENSP00000466118.2:n.1308+17_1308+18insC
ENST00000611848.2:c.1308+17_1308+18insC	ENSP00000478613.2:n.1308+17_1308+18insC
ENST00000684953.1:n.2680+17_2680+18insC
ENST00000685090.1:n.1759+17_1759+18insC
ENST00000685232.1:n.1416+17_1416+18insC
ENST00000688574.1:n.1416+17_1416+18insC
ENST00000691124.1:n.2790+17_2790+18insC
ENST00000342988.8:c.1308+17_1308+18insC MANE Select	ENSP00000341551.3:n.1308+17_1308+18insC
ENST00000342988.7:c.1308+17_1308+18insC	ENSP00000341551.3:n.1308+17_1308+18insC
ENST00000398417.6:c.1308+17_1308+18insC	ENSP00000381452.1:n.1308+17_1308+18insC
ENST00000588745.5:c.1020+17_1020+18insC	ENSP00000464901.1:n.1020+17_1020+18insC
ENST00000590499.1:n.366+17_366+18insC
ENST00000591126.5:n.3309+17_3309+18insC
ENST00000592186.5:c.955+7288_955+7289insC	ENSP00000468611.1:n.955+7288_955+7289insC
ENST00000593223.1:c.75+17_75+18insC	ENSP00000466118.1:n.75+17_75+18insC
ENST00000611848.1:c.508+17_508+18insC
NM_005359.5:c.1308+17_1308+18insC , LRG_318t1:c.1308+17_1308+18insC	NP_005350.1:n.1308+17_1308+18insC
NM_005359.6:c.1308+17_1308+18insC MANE Select	NP_005350.1:n.1308+17_1308+18insC