Canonical Allele Identifier: CA14516944
Gene: SMAD7 HGNC NCBI

Linked Data

dbSNP Id: rs4464148
gnomAD v2: 18-46459032-T-C
gnomAD v3: 18-48932662-T-C
gnomAD v4: 18-48932662-T-C
MyVariant Identifiers: chr18:g.46459032T>C (hg19) chr18:g.48932662T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.48932662T>C , CM000680.2:g.48932662T>C GRCh38
NC_000018.9:g.46459032T>C , CM000680.1:g.46459032T>C GRCh37
NC_000018.8:g.44713030T>C NCBI36
NG_023330.1:g.23050A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262158.8:c.742+9819A>G MANE Select ENSP00000262158.2:n.742+9819A>G
ENST00000262158.7:c.742+9819A>G ENSP00000262158.2:n.742+9819A>G
ENST00000262158.6:c.742+9819A>G ENSP00000262158.2:n.742+9819A>G
ENST00000545051.2:n.327+9819A>G
ENST00000585986.1:n.153+9819A>G
ENST00000586093.1:c.97+9819A>G ENSP00000465590.1:n.97+9819A>G
ENST00000588190.1:n.131+930A>G
ENST00000589634.1:c.739+9819A>G ENSP00000467621.1:n.739+9819A>G
ENST00000591805.5:c.97+9819A>G ENSP00000466902.1:n.97+9819A>G
NM_001190821.1:c.739+9819A>G NP_001177750.1:n.739+9819A>G
NM_001190822.1:c.97+9819A>G NP_001177751.1:n.97+9819A>G
NM_001190823.1:c.178+9819A>G NP_001177752.1:n.178+9819A>G
NM_005904.3:c.742+9819A>G NP_005895.1:n.742+9819A>G
NM_001190822.2:c.97+9819A>G NP_001177751.1:n.97+9819A>G
NM_001190821.2:c.739+9819A>G NP_001177750.1:n.739+9819A>G
NM_001190823.2:c.178+9819A>G NP_001177752.1:n.178+9819A>G
NM_005904.4:c.742+9819A>G MANE Select NP_005895.1:n.742+9819A>G
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