Canonical Allele Identifier: CA300092621
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs952947165
gnomAD v3: 18-51083992-G-A
gnomAD v4: 18-51083992-G-A
MyVariant Identifiers: chr18:g.48610362G>A (hg19) chr18:g.51083992G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51083992G>A , CM000680.2:g.51083992G>A GRCh38
NC_000018.9:g.48610362G>A , CM000680.1:g.48610362G>A GRCh37
NC_000018.8:g.46864360G>A NCBI36
NG_013013.2:g.120953G>A , LRG_318:g.120953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*5525G>A ENSP00000465878.2:n.*5525G>A
ENST00000589076.6:c.*5525G>A ENSP00000466934.2:n.*5525G>A
ENST00000589941.2:c.*5525G>A ENSP00000465874.2:n.*5525G>A
ENST00000590061.2:c.*5525G>A ENSP00000464772.2:n.*5525G>A
ENST00000688574.1:n.7292G>A
ENST00000342988.8:c.*5525G>A MANE Select ENSP00000341551.3:n.*5525G>A
ENST00000342988.7:c.*5525G>A ENSP00000341551.3:n.*5525G>A
ENST00000398417.6:c.*5525G>A ENSP00000381452.1:n.*5525G>A
NM_005359.5:c.*5525G>A , LRG_318t1:c.*5525G>A NP_005350.1:n.*5525G>A
NM_005359.6:c.*5525G>A MANE Select NP_005350.1:n.*5525G>A
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