Canonical Allele Identifier: CA392955864

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 922570
• ClinVar RCV Id: RCV001182690
• dbSNP Id: rs1963045127
• MyVariant Identifiers: chr15:g.67473599T>G (hg19) ; chr15:g.67181261T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181261T>G , CM000677.2:g.67181261T>G	GRCh38
NC_000015.9:g.67473599T>G , CM000677.1:g.67473599T>G	GRCh37
NC_000015.8:g.65260653T>G	NCBI36
NG_011990.1:g.120405T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.94T>G	ENSP00000454165.2:p.Cys32Gly
ENST00000558739.2:c.364T>G	ENSP00000453684.2:p.Cys122Gly
ENST00000558827.2:c.94T>G	ENSP00000452767.2:p.Cys32Gly
ENST00000559460.6:c.364T>G	ENSP00000453082.2:p.Cys122Gly
ENST00000560424.2:c.679T>G	ENSP00000455540.2:p.Cys227Gly
ENST00000327367.9:c.679T>G MANE Select	ENSP00000332973.4:p.Cys227Gly
ENST00000679624.1:c.364T>G	ENSP00000505445.1:p.Cys122Gly
ENST00000680689.1:n.382T>G
ENST00000681239.1:c.364T>G	ENSP00000505641.1:p.Cys122Gly
ENST00000327367.8:c.679T>G	ENSP00000332973.4:p.Cys227Gly
ENST00000439724.7:c.547T>G	ENSP00000401133.3:p.Cys183Gly
ENST00000537194.6:c.94T>G	ENSP00000445348.2:p.Cys32Gly
ENST00000540846.6:c.364T>G	ENSP00000437757.2:p.Cys122Gly
ENST00000558428.5:c.94T>G	ENSP00000454165.1:p.Cys32Gly
ENST00000558827.1:c.94T>G	ENSP00000452767.1:p.Cys32Gly
ENST00000558894.5:c.364T>G	ENSP00000458060.1:p.Cys122Gly
ENST00000560402.1:n.282+6677T>G
NM_001145102.1:c.364T>G	NP_001138574.1:p.Cys122Gly
NM_001145103.1:c.547T>G	NP_001138575.1:p.Cys183Gly
NM_001145104.1:c.94T>G	NP_001138576.1:p.Cys32Gly
NM_005902.3:c.679T>G	NP_005893.1:p.Cys227Gly
XM_011521559.1:c.547T>G	XP_011519861.1:p.Cys183Gly
XM_011521560.1:c.532T>G	XP_011519862.1:p.Cys178Gly
XM_011521559.3:c.547T>G	XP_011519861.1:p.Cys183Gly
NM_005902.4:c.679T>G MANE Select	NP_005893.1:p.Cys227Gly
NM_001145102.2:c.364T>G	NP_001138574.1:p.Cys122Gly
NM_001145103.2:c.547T>G	NP_001138575.1:p.Cys183Gly
NM_001145104.2:c.94T>G	NP_001138576.1:p.Cys32Gly