Canonical Allele Identifier: CA2734801464

Gene: SMAD7

Linked Data

• dbSNP Id: rs2143758568

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48924542C>T , CM000680.2:g.48924542C>T	GRCh38
NC_000018.9:g.46450912C>T , CM000680.1:g.46450912C>T	GRCh37
NC_000018.8:g.44704910C>T	NCBI36
NG_023330.1:g.31170G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262158.8:c.743-2632G>A MANE Select	ENSP00000262158.2:n.743-2632G>A
ENST00000262158.7:c.743-2632G>A	ENSP00000262158.2:n.743-2632G>A
ENST00000262158.6:c.743-2632G>A	ENSP00000262158.2:n.743-2632G>A
ENST00000545051.2:n.328-2632G>A
ENST00000585986.1:n.154-2632G>A
ENST00000586093.1:c.98-2632G>A	ENSP00000465590.1:n.98-2632G>A
ENST00000587336.1:n.50-2632G>A
ENST00000588190.1:n.132-2632G>A
ENST00000589634.1:c.740-2632G>A	ENSP00000467621.1:n.740-2632G>A
ENST00000591805.5:c.98-2632G>A	ENSP00000466902.1:n.98-2632G>A
NM_001190821.1:c.740-2632G>A	NP_001177750.1:n.740-2632G>A
NM_001190822.1:c.98-2632G>A	NP_001177751.1:n.98-2632G>A
NM_001190823.1:c.179-2632G>A	NP_001177752.1:n.179-2632G>A
NM_005904.3:c.743-2632G>A	NP_005895.1:n.743-2632G>A
NM_001190822.2:c.98-2632G>A	NP_001177751.1:n.98-2632G>A
NM_001190821.2:c.740-2632G>A	NP_001177750.1:n.740-2632G>A
NM_001190823.2:c.179-2632G>A	NP_001177752.1:n.179-2632G>A
NM_005904.4:c.743-2632G>A MANE Select	NP_005895.1:n.743-2632G>A