Canonical Allele Identifier: CA2641864427
Gene: SMAD4 HGNC NCBI

Linked Data

gnomAD v4: 18-51083945-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51083945T>C , CM000680.2:g.51083945T>C GRCh38
NC_000018.9:g.48610315T>C , CM000680.1:g.48610315T>C GRCh37
NC_000018.8:g.46864313T>C NCBI36
NG_013013.2:g.120906T>C , LRG_318:g.120906T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.*5478T>C ENSP00000465878.2:n.*5478T>C
ENST00000589076.6:c.*5478T>C ENSP00000466934.2:n.*5478T>C
ENST00000589941.2:c.*5478T>C ENSP00000465874.2:n.*5478T>C
ENST00000590061.2:c.*5478T>C ENSP00000464772.2:n.*5478T>C
ENST00000688574.1:n.7245T>C
ENST00000342988.8:c.*5478T>C MANE Select ENSP00000341551.3:n.*5478T>C
ENST00000342988.7:c.*5478T>C ENSP00000341551.3:n.*5478T>C
ENST00000398417.6:c.*5478T>C ENSP00000381452.1:n.*5478T>C
NM_005359.5:c.*5478T>C , LRG_318t1:c.*5478T>C NP_005350.1:n.*5478T>C
NM_005359.6:c.*5478T>C MANE Select NP_005350.1:n.*5478T>C
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