Canonical Allele Identifier: CA300087540
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs979637863
gnomAD v3: 18-51060090-C-CTT
gnomAD v4: 18-51060090-C-CTT
MyVariant Identifiers: chr18:g.48586460_48586461insTT (hg19) chr18:g.51060090_51060091insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51060091_51060092insTT , CM000680.2:g.51060091_51060092insTT GRCh38
NC_000018.9:g.48586461_48586462insTT , CM000680.1:g.48586461_48586462insTT GRCh37
NC_000018.8:g.46840459_46840460insTT NCBI36
NG_013013.2:g.97052_97053insTT , LRG_318:g.97052_97053insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.955+175_955+176insTT ENSP00000465878.2:n.955+175_955+176insTT
ENST00000589076.6:c.955+175_955+176insTT ENSP00000466934.2:n.955+175_955+176insTT
ENST00000589941.2:c.955+175_955+176insTT ENSP00000465874.2:n.955+175_955+176insTT
ENST00000590061.2:c.955+175_955+176insTT ENSP00000464772.2:n.955+175_955+176insTT
ENST00000593223.2:c.955+175_955+176insTT ENSP00000466118.2:n.955+175_955+176insTT
ENST00000611848.2:c.955+175_955+176insTT ENSP00000478613.2:n.955+175_955+176insTT
ENST00000684953.1:n.2327+175_2327+176insTT
ENST00000685090.1:n.1406+175_1406+176insTT
ENST00000685232.1:n.1063+175_1063+176insTT
ENST00000688307.1:n.206+175_206+176insTT
ENST00000688574.1:n.1063+175_1063+176insTT
ENST00000688903.1:n.1169+175_1169+176insTT
ENST00000342988.8:c.955+175_955+176insTT MANE Select ENSP00000341551.3:n.955+175_955+176insTT
ENST00000342988.7:c.955+175_955+176insTT ENSP00000341551.3:n.955+175_955+176insTT
ENST00000398417.6:c.955+175_955+176insTT ENSP00000381452.1:n.955+175_955+176insTT
ENST00000588745.5:c.667+5098_667+5099insTT ENSP00000464901.1:n.667+5098_667+5099insTT
ENST00000591126.5:n.2956+175_2956+176insTT
ENST00000592186.5:c.955+175_955+176insTT ENSP00000468611.1:n.955+175_955+176insTT
ENST00000611848.1:c.155+175_155+176insTT
NM_005359.5:c.955+175_955+176insTT , LRG_318t1:c.955+175_955+176insTT NP_005350.1:n.955+175_955+176insTT
NM_005359.6:c.955+175_955+176insTT MANE Select NP_005350.1:n.955+175_955+176insTT
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