Canonical Allele Identifier: CA2629121491

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67187556-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187556C>G , CM000677.2:g.67187556C>G	GRCh38
NC_000015.9:g.67479894C>G , CM000677.1:g.67479894C>G	GRCh37
NC_000015.8:g.65266948C>G	NCBI36
NG_011990.1:g.126700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.569+47C>G	ENSP00000454165.2:n.569+47C>G
ENST00000558739.2:c.839+47C>G	ENSP00000453684.2:n.839+47C>G
ENST00000558827.2:c.569+47C>G	ENSP00000452767.2:n.569+47C>G
ENST00000559460.6:c.839+47C>G	ENSP00000453082.2:n.839+47C>G
ENST00000560424.2:c.1265+47C>G	ENSP00000455540.2:n.1265+47C>G
ENST00000327367.9:c.1154+47C>G MANE Select	ENSP00000332973.4:n.1154+47C>G
ENST00000679624.1:c.839+47C>G	ENSP00000505445.1:n.839+47C>G
ENST00000680689.1:n.857+47C>G
ENST00000681239.1:c.839+47C>G	ENSP00000505641.1:n.839+47C>G
ENST00000327367.8:c.1154+47C>G	ENSP00000332973.4:n.1154+47C>G
ENST00000439724.7:c.1022+47C>G	ENSP00000401133.3:n.1022+47C>G
ENST00000537194.6:c.569+47C>G	ENSP00000445348.2:n.569+47C>G
ENST00000540846.6:c.839+47C>G	ENSP00000437757.2:n.839+47C>G
ENST00000558763.1:n.848+47C>G
ENST00000560402.1:n.283-5317C>G
ENST00000560424.1:c.346+47C>G
NM_001145102.1:c.839+47C>G	NP_001138574.1:n.839+47C>G
NM_001145103.1:c.1022+47C>G	NP_001138575.1:n.1022+47C>G
NM_001145104.1:c.569+47C>G	NP_001138576.1:n.569+47C>G
NM_005902.3:c.1154+47C>G	NP_005893.1:n.1154+47C>G
XM_011521559.1:c.1022+47C>G	XP_011519861.1:n.1022+47C>G
XM_011521560.1:c.1007+47C>G	XP_011519862.1:n.1007+47C>G
XM_011521559.3:c.1022+47C>G	XP_011519861.1:n.1022+47C>G
NM_005902.4:c.1154+47C>G MANE Select	NP_005893.1:n.1154+47C>G
NM_001145102.2:c.839+47C>G	NP_001138574.1:n.839+47C>G
NM_001145103.2:c.1022+47C>G	NP_001138575.1:n.1022+47C>G
NM_001145104.2:c.569+47C>G	NP_001138576.1:n.569+47C>G