Canonical Allele Identifier: CA8957659

Gene: SMAD7

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48921759G>C , CM000680.2:g.48921759G>C	GRCh38
NC_000018.9:g.46448129G>C , CM000680.1:g.46448129G>C	GRCh37
NC_000018.8:g.44702127G>C	NCBI36
NG_023330.1:g.33953C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005904.4:c.894C>G MANE Select	NP_005895.1:p.Leu298=
ENST00000262158.8:c.894C>G MANE Select	ENSP00000262158.2:p.Leu298=
NM_001190821.1:c.891C>G	NP_001177750.1:p.Leu297=
NM_001190821.2:c.891C>G	NP_001177750.1:p.Leu297=
NM_001190822.1:c.249C>G	NP_001177751.1:p.Leu83=
NM_001190822.2:c.249C>G	NP_001177751.1:p.Leu83=
NM_001190823.1:c.330C>G	NP_001177752.1:p.Leu110=
NM_001190823.2:c.330C>G	NP_001177752.1:p.Leu110=
NM_005904.3:c.894C>G	NP_005895.1:p.Leu298=
ENST00000262158.6:c.894C>G	ENSP00000262158.2:p.Leu298=
ENST00000262158.7:c.894C>G	ENSP00000262158.2:p.Leu298=
ENST00000545051.2:n.479C>G
ENST00000585986.1:n.305C>G
ENST00000586093.1:c.249C>G	ENSP00000465590.1:p.Leu83=
ENST00000587336.1:n.201C>G
ENST00000588190.1:n.283C>G
ENST00000589634.1:c.891C>G	ENSP00000467621.1:p.Leu297=
ENST00000591805.5:c.249C>G	ENSP00000466902.1:p.Leu83=