Canonical Allele Identifier: CA392956071

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 444345
• ClinVar RCV Id: RCV000513360
• dbSNP Id: rs886039137
• MyVariant Identifiers: chr15:g.67473647C>G (hg19) ; chr15:g.67181309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181309C>G , CM000677.2:g.67181309C>G	GRCh38
NC_000015.9:g.67473647C>G , CM000677.1:g.67473647C>G	GRCh37
NC_000015.8:g.65260701C>G	NCBI36
NG_011990.1:g.120453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.142C>G	ENSP00000454165.2:p.Arg48Gly
ENST00000558739.2:c.412C>G	ENSP00000453684.2:p.Arg138Gly
ENST00000558827.2:c.142C>G	ENSP00000452767.2:p.Arg48Gly
ENST00000559460.6:c.412C>G	ENSP00000453082.2:p.Arg138Gly
ENST00000560424.2:c.727C>G	ENSP00000455540.2:p.Arg243Gly
ENST00000327367.9:c.727C>G MANE Select	ENSP00000332973.4:p.Arg243Gly
ENST00000679624.1:c.412C>G	ENSP00000505445.1:p.Arg138Gly
ENST00000680689.1:n.430C>G
ENST00000681239.1:c.412C>G	ENSP00000505641.1:p.Arg138Gly
ENST00000327367.8:c.727C>G	ENSP00000332973.4:p.Arg243Gly
ENST00000439724.7:c.595C>G	ENSP00000401133.3:p.Arg199Gly
ENST00000537194.6:c.142C>G	ENSP00000445348.2:p.Arg48Gly
ENST00000540846.6:c.412C>G	ENSP00000437757.2:p.Arg138Gly
ENST00000558428.5:c.142C>G	ENSP00000454165.1:p.Arg48Gly
ENST00000558827.1:c.142C>G	ENSP00000452767.1:p.Arg48Gly
ENST00000558894.5:c.412C>G	ENSP00000458060.1:p.Arg138Gly
ENST00000560402.1:n.282+6725C>G
NM_001145102.1:c.412C>G	NP_001138574.1:p.Arg138Gly
NM_001145103.1:c.595C>G	NP_001138575.1:p.Arg199Gly
NM_001145104.1:c.142C>G	NP_001138576.1:p.Arg48Gly
NM_005902.3:c.727C>G	NP_005893.1:p.Arg243Gly
XM_011521559.1:c.595C>G	XP_011519861.1:p.Arg199Gly
XM_011521560.1:c.580C>G	XP_011519862.1:p.Arg194Gly
XM_011521559.3:c.595C>G	XP_011519861.1:p.Arg199Gly
NM_005902.4:c.727C>G MANE Select	NP_005893.1:p.Arg243Gly
NM_001145102.2:c.412C>G	NP_001138574.1:p.Arg138Gly
NM_001145103.2:c.595C>G	NP_001138575.1:p.Arg199Gly
NM_001145104.2:c.142C>G	NP_001138576.1:p.Arg48Gly