Canonical Allele Identifier: CA2301971449

Gene: SMAD7

Linked Data

• dbSNP Id: rs1599219930

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48924519T>C , CM000680.2:g.48924519T>C	GRCh38
NC_000018.9:g.46450889T>C , CM000680.1:g.46450889T>C	GRCh37
NC_000018.8:g.44704887T>C	NCBI36
NG_023330.1:g.31193A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262158.8:c.743-2609A>G MANE Select	ENSP00000262158.2:n.743-2609A>G
ENST00000262158.7:c.743-2609A>G	ENSP00000262158.2:n.743-2609A>G
ENST00000262158.6:c.743-2609A>G	ENSP00000262158.2:n.743-2609A>G
ENST00000545051.2:n.328-2609A>G
ENST00000585986.1:n.154-2609A>G
ENST00000586093.1:c.98-2609A>G	ENSP00000465590.1:n.98-2609A>G
ENST00000587336.1:n.50-2609A>G
ENST00000588190.1:n.132-2609A>G
ENST00000589634.1:c.740-2609A>G	ENSP00000467621.1:n.740-2609A>G
ENST00000591805.5:c.98-2609A>G	ENSP00000466902.1:n.98-2609A>G
NM_001190821.1:c.740-2609A>G	NP_001177750.1:n.740-2609A>G
NM_001190822.1:c.98-2609A>G	NP_001177751.1:n.98-2609A>G
NM_001190823.1:c.179-2609A>G	NP_001177752.1:n.179-2609A>G
NM_005904.3:c.743-2609A>G	NP_005895.1:n.743-2609A>G
NM_001190822.2:c.98-2609A>G	NP_001177751.1:n.98-2609A>G
NM_001190821.2:c.740-2609A>G	NP_001177750.1:n.740-2609A>G
NM_001190823.2:c.179-2609A>G	NP_001177752.1:n.179-2609A>G
NM_005904.4:c.743-2609A>G MANE Select	NP_005895.1:n.743-2609A>G