Canonical Allele Identifier: CA780032000

Gene: SMAD7

Linked Data

• dbSNP Id: rs1177230917
• gnomAD v3: 18-48932691-T-C
• gnomAD v4: 18-48932691-T-C
• MyVariant Identifiers: chr18:g.46459061T>C (hg19) ; chr18:g.48932691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48932691T>C , CM000680.2:g.48932691T>C	GRCh38
NC_000018.9:g.46459061T>C , CM000680.1:g.46459061T>C	GRCh37
NC_000018.8:g.44713059T>C	NCBI36
NG_023330.1:g.23021A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262158.8:c.742+9790A>G MANE Select	ENSP00000262158.2:n.742+9790A>G
ENST00000262158.7:c.742+9790A>G	ENSP00000262158.2:n.742+9790A>G
ENST00000262158.6:c.742+9790A>G	ENSP00000262158.2:n.742+9790A>G
ENST00000545051.2:n.327+9790A>G
ENST00000585986.1:n.153+9790A>G
ENST00000586093.1:c.97+9790A>G	ENSP00000465590.1:n.97+9790A>G
ENST00000588190.1:n.131+901A>G
ENST00000589634.1:c.739+9790A>G	ENSP00000467621.1:n.739+9790A>G
ENST00000591805.5:c.97+9790A>G	ENSP00000466902.1:n.97+9790A>G
NM_001190821.1:c.739+9790A>G	NP_001177750.1:n.739+9790A>G
NM_001190822.1:c.97+9790A>G	NP_001177751.1:n.97+9790A>G
NM_001190823.1:c.178+9790A>G	NP_001177752.1:n.178+9790A>G
NM_005904.3:c.742+9790A>G	NP_005895.1:n.742+9790A>G
NM_001190822.2:c.97+9790A>G	NP_001177751.1:n.97+9790A>G
NM_001190821.2:c.739+9790A>G	NP_001177750.1:n.739+9790A>G
NM_001190823.2:c.178+9790A>G	NP_001177752.1:n.178+9790A>G
NM_005904.4:c.742+9790A>G MANE Select	NP_005895.1:n.742+9790A>G