Canonical Allele Identifier: CA2301971475
Gene: SMAD7 HGNC NCBI

Linked Data

dbSNP Id: rs1599219966

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.48924553C>A , CM000680.2:g.48924553C>A GRCh38
NC_000018.9:g.46450923C>A , CM000680.1:g.46450923C>A GRCh37
NC_000018.8:g.44704921C>A NCBI36
NG_023330.1:g.31159G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262158.8:c.743-2643G>T MANE Select ENSP00000262158.2:n.743-2643G>T
ENST00000262158.7:c.743-2643G>T ENSP00000262158.2:n.743-2643G>T
ENST00000262158.6:c.743-2643G>T ENSP00000262158.2:n.743-2643G>T
ENST00000545051.2:n.328-2643G>T
ENST00000585986.1:n.154-2643G>T
ENST00000586093.1:c.98-2643G>T ENSP00000465590.1:n.98-2643G>T
ENST00000587336.1:n.50-2643G>T
ENST00000588190.1:n.132-2643G>T
ENST00000589634.1:c.740-2643G>T ENSP00000467621.1:n.740-2643G>T
ENST00000591805.5:c.98-2643G>T ENSP00000466902.1:n.98-2643G>T
NM_001190821.1:c.740-2643G>T NP_001177750.1:n.740-2643G>T
NM_001190822.1:c.98-2643G>T NP_001177751.1:n.98-2643G>T
NM_001190823.1:c.179-2643G>T NP_001177752.1:n.179-2643G>T
NM_005904.3:c.743-2643G>T NP_005895.1:n.743-2643G>T
NM_001190822.2:c.98-2643G>T NP_001177751.1:n.98-2643G>T
NM_001190821.2:c.740-2643G>T NP_001177750.1:n.740-2643G>T
NM_001190823.2:c.179-2643G>T NP_001177752.1:n.179-2643G>T
NM_005904.4:c.743-2643G>T MANE Select NP_005895.1:n.743-2643G>T