Canonical Allele Identifier: CA392955953

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1492867
• ClinVar RCV Id: RCV001983935
• dbSNP Id: rs2140313911
• MyVariant Identifiers: chr15:g.67473619C>G (hg19) ; chr15:g.67181281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181281C>G , CM000677.2:g.67181281C>G	GRCh38
NC_000015.9:g.67473619C>G , CM000677.1:g.67473619C>G	GRCh37
NC_000015.8:g.65260673C>G	NCBI36
NG_011990.1:g.120425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.114C>G	ENSP00000454165.2:p.Cys38Trp
ENST00000558739.2:c.384C>G	ENSP00000453684.2:p.Cys128Trp
ENST00000558827.2:c.114C>G	ENSP00000452767.2:p.Cys38Trp
ENST00000559460.6:c.384C>G	ENSP00000453082.2:p.Cys128Trp
ENST00000560424.2:c.699C>G	ENSP00000455540.2:p.Cys233Trp
ENST00000327367.9:c.699C>G MANE Select	ENSP00000332973.4:p.Cys233Trp
ENST00000679624.1:c.384C>G	ENSP00000505445.1:p.Cys128Trp
ENST00000680689.1:n.402C>G
ENST00000681239.1:c.384C>G	ENSP00000505641.1:p.Cys128Trp
ENST00000327367.8:c.699C>G	ENSP00000332973.4:p.Cys233Trp
ENST00000439724.7:c.567C>G	ENSP00000401133.3:p.Cys189Trp
ENST00000537194.6:c.114C>G	ENSP00000445348.2:p.Cys38Trp
ENST00000540846.6:c.384C>G	ENSP00000437757.2:p.Cys128Trp
ENST00000558428.5:c.114C>G	ENSP00000454165.1:p.Cys38Trp
ENST00000558827.1:c.114C>G	ENSP00000452767.1:p.Cys38Trp
ENST00000558894.5:c.384C>G	ENSP00000458060.1:p.Cys128Trp
ENST00000560402.1:n.282+6697C>G
NM_001145102.1:c.384C>G	NP_001138574.1:p.Cys128Trp
NM_001145103.1:c.567C>G	NP_001138575.1:p.Cys189Trp
NM_001145104.1:c.114C>G	NP_001138576.1:p.Cys38Trp
NM_005902.3:c.699C>G	NP_005893.1:p.Cys233Trp
XM_011521559.1:c.567C>G	XP_011519861.1:p.Cys189Trp
XM_011521560.1:c.552C>G	XP_011519862.1:p.Cys184Trp
XM_011521559.3:c.567C>G	XP_011519861.1:p.Cys189Trp
NM_005902.4:c.699C>G MANE Select	NP_005893.1:p.Cys233Trp
NM_001145102.2:c.384C>G	NP_001138574.1:p.Cys128Trp
NM_001145103.2:c.567C>G	NP_001138575.1:p.Cys189Trp
NM_001145104.2:c.114C>G	NP_001138576.1:p.Cys38Trp