Canonical Allele Identifier: CA392958254

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2504701
• ClinVar RCV Id: RCV003234292 ; RCV004009685
• dbSNP Id: rs1963251002
• gnomAD v4: 15-67187458-G-A
• COSMIC: COSM1226723 ; COSM1226724
• MyVariant Identifiers: chr15:g.67479796G>A (hg19) ; chr15:g.67187458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187458G>A , CM000677.2:g.67187458G>A	GRCh38
NC_000015.9:g.67479796G>A , CM000677.1:g.67479796G>A	GRCh37
NC_000015.8:g.65266850G>A	NCBI36
NG_011990.1:g.126602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.518G>A	ENSP00000454165.2:p.Arg173Gln
ENST00000558739.2:c.788G>A	ENSP00000453684.2:p.Arg263Gln
ENST00000558827.2:c.518G>A	ENSP00000452767.2:p.Arg173Gln
ENST00000559460.6:c.788G>A	ENSP00000453082.2:p.Arg263Gln
ENST00000560424.2:c.1214G>A	ENSP00000455540.2:p.Arg405Gln
ENST00000327367.9:c.1103G>A MANE Select	ENSP00000332973.4:p.Arg368Gln
ENST00000679624.1:c.788G>A	ENSP00000505445.1:p.Arg263Gln
ENST00000680689.1:n.806G>A
ENST00000681239.1:c.788G>A	ENSP00000505641.1:p.Arg263Gln
ENST00000327367.8:c.1103G>A	ENSP00000332973.4:p.Arg368Gln
ENST00000439724.7:c.971G>A	ENSP00000401133.3:p.Arg324Gln
ENST00000537194.6:c.518G>A	ENSP00000445348.2:p.Arg173Gln
ENST00000540846.6:c.788G>A	ENSP00000437757.2:p.Arg263Gln
ENST00000558763.1:n.797G>A
ENST00000560402.1:n.283-5415G>A
ENST00000560424.1:c.295G>A
NM_001145102.1:c.788G>A	NP_001138574.1:p.Arg263Gln
NM_001145103.1:c.971G>A	NP_001138575.1:p.Arg324Gln
NM_001145104.1:c.518G>A	NP_001138576.1:p.Arg173Gln
NM_005902.3:c.1103G>A	NP_005893.1:p.Arg368Gln
XM_011521559.1:c.971G>A	XP_011519861.1:p.Arg324Gln
XM_011521560.1:c.956G>A	XP_011519862.1:p.Arg319Gln
XM_011521559.3:c.971G>A	XP_011519861.1:p.Arg324Gln
NM_005902.4:c.1103G>A MANE Select	NP_005893.1:p.Arg368Gln
NM_001145102.2:c.788G>A	NP_001138574.1:p.Arg263Gln
NM_001145103.2:c.971G>A	NP_001138575.1:p.Arg324Gln
NM_001145104.2:c.518G>A	NP_001138576.1:p.Arg173Gln