Canonical Allele Identifier: CA020119

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 198187
• ClinVar RCV Id: RCV000179456 ; RCV001852232
• dbSNP Id: rs794727798
• COSMIC: COSM964264 ; COSM1152860
• MyVariant Identifiers: chr15:g.67473722C>T (hg19) ; chr15:g.67181384C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181384C>T , CM000677.2:g.67181384C>T	GRCh38
NC_000015.9:g.67473722C>T , CM000677.1:g.67473722C>T	GRCh37
NC_000015.8:g.65260776C>T	NCBI36
NG_011990.1:g.120528C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.217C>T	ENSP00000454165.2:p.Arg73Cys
ENST00000558739.2:c.487C>T	ENSP00000453684.2:p.Arg163Cys
ENST00000558827.2:c.217C>T	ENSP00000452767.2:p.Arg73Cys
ENST00000559460.6:c.487C>T	ENSP00000453082.2:p.Arg163Cys
ENST00000560424.2:c.802C>T	ENSP00000455540.2:p.Arg268Cys
ENST00000327367.9:c.802C>T MANE Select	ENSP00000332973.4:p.Arg268Cys
ENST00000679624.1:c.487C>T	ENSP00000505445.1:p.Arg163Cys
ENST00000680689.1:n.505C>T
ENST00000681239.1:c.487C>T	ENSP00000505641.1:p.Arg163Cys
ENST00000327367.8:c.802C>T	ENSP00000332973.4:p.Arg268Cys
ENST00000439724.7:c.670C>T	ENSP00000401133.3:p.Arg224Cys
ENST00000537194.6:c.217C>T	ENSP00000445348.2:p.Arg73Cys
ENST00000540846.6:c.487C>T	ENSP00000437757.2:p.Arg163Cys
ENST00000558428.5:c.217C>T	ENSP00000454165.1:p.Arg73Cys
ENST00000558827.1:c.217C>T	ENSP00000452767.1:p.Arg73Cys
ENST00000558894.5:c.487C>T	ENSP00000458060.1:p.Arg163Cys
ENST00000560402.1:n.282+6800C>T
NM_001145102.1:c.487C>T	NP_001138574.1:p.Arg163Cys
NM_001145103.1:c.670C>T	NP_001138575.1:p.Arg224Cys
NM_001145104.1:c.217C>T	NP_001138576.1:p.Arg73Cys
NM_005902.3:c.802C>T	NP_005893.1:p.Arg268Cys
XM_011521559.1:c.670C>T	XP_011519861.1:p.Arg224Cys
XM_011521560.1:c.655C>T	XP_011519862.1:p.Arg219Cys
XM_011521559.3:c.670C>T	XP_011519861.1:p.Arg224Cys
NM_005902.4:c.802C>T MANE Select	NP_005893.1:p.Arg268Cys
NM_001145102.2:c.487C>T	NP_001138574.1:p.Arg163Cys
NM_001145103.2:c.670C>T	NP_001138575.1:p.Arg224Cys
NM_001145104.2:c.217C>T	NP_001138576.1:p.Arg73Cys