Canonical Allele Identifier: CA300089185

Gene: SMAD4

Linked Data

• dbSNP Id: rs766473122
• gnomAD v3: 18-51078689-T-G
• gnomAD v4: 18-51078689-T-G
• MyVariant Identifiers: chr18:g.48605059T>G (hg19) ; chr18:g.51078689T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078689T>G , CM000680.2:g.51078689T>G	GRCh38
NC_000018.9:g.48605059T>G , CM000680.1:g.48605059T>G	GRCh37
NC_000018.8:g.46859057T>G	NCBI36
NG_013013.2:g.115650T>G , LRG_318:g.115650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*222T>G	ENSP00000465878.2:n.*222T>G
ENST00000589076.6:c.*222T>G	ENSP00000466934.2:n.*222T>G
ENST00000589941.2:c.*222T>G	ENSP00000465874.2:n.*222T>G
ENST00000590061.2:c.*222T>G	ENSP00000464772.2:n.*222T>G
ENST00000593223.2:c.*1878T>G	ENSP00000466118.2:n.*1878T>G
ENST00000611848.2:c.*533T>G	ENSP00000478613.2:n.*533T>G
ENST00000684953.1:n.3896T>G
ENST00000685090.1:n.3811T>G
ENST00000685232.1:n.2102T>G
ENST00000688574.1:n.1989T>G
ENST00000691124.1:n.4842T>G
ENST00000342988.8:c.*222T>G MANE Select	ENSP00000341551.3:n.*222T>G
ENST00000342988.7:c.*222T>G	ENSP00000341551.3:n.*222T>G
ENST00000398417.6:c.*222T>G	ENSP00000381452.1:n.*222T>G
ENST00000586253.1:n.603T>G
ENST00000591126.5:n.3882T>G
ENST00000611848.1:c.1194T>G
NM_005359.5:c.*222T>G , LRG_318t1:c.*222T>G	NP_005350.1:n.*222T>G
NM_005359.6:c.*222T>G MANE Select	NP_005350.1:n.*222T>G