Canonical Allele Identifier: CA14535463
Gene: SMAD7 HGNC NCBI

Linked Data

dbSNP Id: rs12953717

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.48927559C>T , CM000680.2:g.48927559C>T GRCh38
NC_000018.9:g.46453929C>T , CM000680.1:g.46453929C>T GRCh37
NC_000018.8:g.44707927C>T NCBI36
NG_023330.1:g.28153G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262158.8:c.743-5649G>A MANE Select ENSP00000262158.2:p.=
ENST00000262158.7:c.743-5649G>A ENSP00000262158.2:p.=
ENST00000262158.6:c.743-5649G>A ENSP00000262158.2:p.=
ENST00000545051.2:n.328-5649G>A
ENST00000585986.1:n.154-5649G>A
ENST00000586093.1:c.98-5649G>A ENSP00000465590.1:p.=
ENST00000587336.1:n.49+2575G>A
ENST00000588190.1:n.132-5649G>A
ENST00000589634.1:n.740-5649G>A ENSP00000467621.1:p.=
ENST00000591805.5:c.98-5649G>A ENSP00000466902.1:p.=
NM_001190821.1:c.740-5649G>A NP_001177750.1:p.=
NM_001190822.1:c.98-5649G>A NP_001177751.1:p.=
NM_001190823.1:c.179-5649G>A NP_001177752.1:p.=
NM_005904.3:c.743-5649G>A NP_005895.1:p.=
NM_001190822.2:c.98-5649G>A NP_001177751.1:p.=
NM_001190821.2:c.740-5649G>A NP_001177750.1:p.=
NM_001190823.2:c.179-5649G>A NP_001177752.1:p.=
NM_005904.4:c.743-5649G>A MANE Select NP_005895.1:p.=