Canonical Allele Identifier: CA300089128

Gene: SMAD4

Linked Data

• dbSNP Id: rs755748098
• gnomAD v4: 18-51078661-T-G
• MyVariant Identifiers: chr18:g.48605031T>G (hg19) ; chr18:g.51078661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078661T>G , CM000680.2:g.51078661T>G	GRCh38
NC_000018.9:g.48605031T>G , CM000680.1:g.48605031T>G	GRCh37
NC_000018.8:g.46859029T>G	NCBI36
NG_013013.2:g.115622T>G , LRG_318:g.115622T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*194T>G	ENSP00000465878.2:n.*194T>G
ENST00000589076.6:c.*194T>G	ENSP00000466934.2:n.*194T>G
ENST00000589941.2:c.*194T>G	ENSP00000465874.2:n.*194T>G
ENST00000590061.2:c.*194T>G	ENSP00000464772.2:n.*194T>G
ENST00000593223.2:c.*1850T>G	ENSP00000466118.2:n.*1850T>G
ENST00000611848.2:c.*505T>G	ENSP00000478613.2:n.*505T>G
ENST00000684953.1:n.3868T>G
ENST00000685090.1:n.3783T>G
ENST00000685232.1:n.2074T>G
ENST00000688574.1:n.1961T>G
ENST00000691124.1:n.4814T>G
ENST00000342988.8:c.*194T>G MANE Select	ENSP00000341551.3:n.*194T>G
ENST00000342988.7:c.*194T>G	ENSP00000341551.3:n.*194T>G
ENST00000398417.6:c.*194T>G	ENSP00000381452.1:n.*194T>G
ENST00000586253.1:n.575T>G
ENST00000591126.5:n.3854T>G
ENST00000611848.1:c.1166T>G
NM_005359.5:c.*194T>G , LRG_318t1:c.*194T>G	NP_005350.1:n.*194T>G
NM_005359.6:c.*194T>G MANE Select	NP_005350.1:n.*194T>G