Canonical Allele Identifier: CA14586767

Gene: SMAD7

Linked Data

• dbSNP Id: rs7229639
• gnomAD v2: 18-46450976-A-G
• gnomAD v3: 18-48924606-A-G
• gnomAD v4: 18-48924606-A-G
• MyVariant Identifiers: chr18:g.46450976A>G (hg19) ; chr18:g.48924606A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48924606A>G , CM000680.2:g.48924606A>G	GRCh38
NC_000018.9:g.46450976A>G , CM000680.1:g.46450976A>G	GRCh37
NC_000018.8:g.44704974A>G	NCBI36
NG_023330.1:g.31106T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262158.8:c.743-2696T>C MANE Select	ENSP00000262158.2:n.743-2696T>C
ENST00000262158.7:c.743-2696T>C	ENSP00000262158.2:n.743-2696T>C
ENST00000262158.6:c.743-2696T>C	ENSP00000262158.2:n.743-2696T>C
ENST00000545051.2:n.328-2696T>C
ENST00000585986.1:n.154-2696T>C
ENST00000586093.1:c.98-2696T>C	ENSP00000465590.1:n.98-2696T>C
ENST00000587336.1:n.50-2696T>C
ENST00000588190.1:n.132-2696T>C
ENST00000589634.1:c.740-2696T>C	ENSP00000467621.1:n.740-2696T>C
ENST00000591805.5:c.98-2696T>C	ENSP00000466902.1:n.98-2696T>C
NM_001190821.1:c.740-2696T>C	NP_001177750.1:n.740-2696T>C
NM_001190822.1:c.98-2696T>C	NP_001177751.1:n.98-2696T>C
NM_001190823.1:c.179-2696T>C	NP_001177752.1:n.179-2696T>C
NM_005904.3:c.743-2696T>C	NP_005895.1:n.743-2696T>C
NM_001190822.2:c.98-2696T>C	NP_001177751.1:n.98-2696T>C
NM_001190821.2:c.740-2696T>C	NP_001177750.1:n.740-2696T>C
NM_001190823.2:c.179-2696T>C	NP_001177752.1:n.179-2696T>C
NM_005904.4:c.743-2696T>C MANE Select	NP_005895.1:n.743-2696T>C