Canonical Allele Identifier: CA14535456

Gene: SMAD7

Linked Data

• dbSNP Id: rs6507874
• gnomAD v2: 18-46448805-T-C
• gnomAD v3: 18-48922435-T-C
• gnomAD v4: 18-48922435-T-C
• MyVariant Identifiers: chr18:g.46448805T>C (hg19) ; chr18:g.48922435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48922435T>C , CM000680.2:g.48922435T>C	GRCh38
NC_000018.9:g.46448805T>C , CM000680.1:g.46448805T>C	GRCh37
NC_000018.8:g.44702803T>C	NCBI36
NG_023330.1:g.33277A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262158.8:c.743-525A>G MANE Select	ENSP00000262158.2:n.743-525A>G
ENST00000262158.7:c.743-525A>G	ENSP00000262158.2:n.743-525A>G
ENST00000262158.6:c.743-525A>G	ENSP00000262158.2:n.743-525A>G
ENST00000545051.2:n.328-525A>G
ENST00000585986.1:n.154-525A>G
ENST00000586093.1:c.98-525A>G	ENSP00000465590.1:n.98-525A>G
ENST00000587336.1:n.50-525A>G
ENST00000588190.1:n.132-525A>G
ENST00000589634.1:c.740-525A>G	ENSP00000467621.1:n.740-525A>G
ENST00000591805.5:c.98-525A>G	ENSP00000466902.1:n.98-525A>G
NM_001190821.1:c.740-525A>G	NP_001177750.1:n.740-525A>G
NM_001190822.1:c.98-525A>G	NP_001177751.1:n.98-525A>G
NM_001190823.1:c.179-525A>G	NP_001177752.1:n.179-525A>G
NM_005904.3:c.743-525A>G	NP_005895.1:n.743-525A>G
NM_001190822.2:c.98-525A>G	NP_001177751.1:n.98-525A>G
NM_001190821.2:c.740-525A>G	NP_001177750.1:n.740-525A>G
NM_001190823.2:c.179-525A>G	NP_001177752.1:n.179-525A>G
NM_005904.4:c.743-525A>G MANE Select	NP_005895.1:n.743-525A>G