Canonical Allele Identifier: CA8957608
Gene: SMAD7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.48921447G>C , CM000680.2:g.48921447G>C GRCh38
NC_000018.9:g.46447817G>C , CM000680.1:g.46447817G>C GRCh37
NC_000018.8:g.44701815G>C NCBI36
NG_023330.1:g.34265C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262158.8:c.1206C>G MANE Select ENSP00000262158.2:p.Gly402=
ENST00000262158.7:c.1206C>G ENSP00000262158.2:p.Gly402=
ENST00000262158.6:c.1206C>G ENSP00000262158.2:p.Gly402=
ENST00000545051.2:n.791C>G
ENST00000587336.1:n.513C>G
ENST00000589634.1:c.1203C>G ENSP00000467621.1:p.Gly401=
ENST00000591805.5:c.561C>G ENSP00000466902.1:p.Gly187=
NM_001190821.1:c.1203C>G NP_001177750.1:p.Gly401=
NM_001190822.1:c.561C>G NP_001177751.1:p.Gly187=
NM_001190823.1:c.642C>G NP_001177752.1:p.Gly214=
NM_005904.3:c.1206C>G NP_005895.1:p.Gly402=
NM_001190822.2:c.561C>G NP_001177751.1:p.Gly187=
NM_001190821.2:c.1203C>G NP_001177750.1:p.Gly401=
NM_001190823.2:c.642C>G NP_001177752.1:p.Gly214=
NM_005904.4:c.1206C>G MANE Select NP_005895.1:p.Gly402=
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