Canonical Allele Identifier: CA2301975445
Gene: SMAD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.48932682G= , CM000680.2:g.48932682G= GRCh38
NC_000018.9:g.46459052G= , CM000680.1:g.46459052G= GRCh37
NC_000018.8:g.44713050G= NCBI36
NG_023330.1:g.23030C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262158.8:c.742+9799C= MANE Select ENSP00000262158.2:n.742+9799C=
ENST00000262158.7:c.742+9799C= ENSP00000262158.2:n.742+9799C=
ENST00000262158.6:c.742+9799C= ENSP00000262158.2:n.742+9799C=
ENST00000545051.2:n.327+9799C=
ENST00000585986.1:n.153+9799C=
ENST00000586093.1:c.97+9799C= ENSP00000465590.1:n.97+9799C=
ENST00000588190.1:n.131+910C=
ENST00000589634.1:c.739+9799C= ENSP00000467621.1:n.739+9799C=
ENST00000591805.5:c.97+9799C= ENSP00000466902.1:n.97+9799C=
NM_001190821.1:c.739+9799C= NP_001177750.1:n.739+9799C=
NM_001190822.1:c.97+9799C= NP_001177751.1:n.97+9799C=
NM_001190823.1:c.178+9799C= NP_001177752.1:n.178+9799C=
NM_005904.3:c.742+9799C= NP_005895.1:n.742+9799C=
NM_001190822.2:c.97+9799C= NP_001177751.1:n.97+9799C=
NM_001190821.2:c.739+9799C= NP_001177750.1:n.739+9799C=
NM_001190823.2:c.178+9799C= NP_001177752.1:n.178+9799C=
NM_005904.4:c.742+9799C= MANE Select NP_005895.1:n.742+9799C=