Canonical Allele Identifier: CA392956262

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1066678
• ClinVar RCV Id: RCV001377744
• dbSNP Id: rs2140314210
• MyVariant Identifiers: chr15:g.67473705A>T (hg19) ; chr15:g.67181367A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181367A>T , CM000677.2:g.67181367A>T	GRCh38
NC_000015.9:g.67473705A>T , CM000677.1:g.67473705A>T	GRCh37
NC_000015.8:g.65260759A>T	NCBI36
NG_011990.1:g.120511A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.200A>T	ENSP00000454165.2:p.Asp67Val
ENST00000558739.2:c.470A>T	ENSP00000453684.2:p.Asp157Val
ENST00000558827.2:c.200A>T	ENSP00000452767.2:p.Asp67Val
ENST00000559460.6:c.470A>T	ENSP00000453082.2:p.Asp157Val
ENST00000560424.2:c.785A>T	ENSP00000455540.2:p.Asp262Val
ENST00000327367.9:c.785A>T MANE Select	ENSP00000332973.4:p.Asp262Val
ENST00000679624.1:c.470A>T	ENSP00000505445.1:p.Asp157Val
ENST00000680689.1:n.488A>T
ENST00000681239.1:c.470A>T	ENSP00000505641.1:p.Asp157Val
ENST00000327367.8:c.785A>T	ENSP00000332973.4:p.Asp262Val
ENST00000439724.7:c.653A>T	ENSP00000401133.3:p.Asp218Val
ENST00000537194.6:c.200A>T	ENSP00000445348.2:p.Asp67Val
ENST00000540846.6:c.470A>T	ENSP00000437757.2:p.Asp157Val
ENST00000558428.5:c.200A>T	ENSP00000454165.1:p.Asp67Val
ENST00000558827.1:c.200A>T	ENSP00000452767.1:p.Asp67Val
ENST00000558894.5:c.470A>T	ENSP00000458060.1:p.Asp157Val
ENST00000560402.1:n.282+6783A>T
NM_001145102.1:c.470A>T	NP_001138574.1:p.Asp157Val
NM_001145103.1:c.653A>T	NP_001138575.1:p.Asp218Val
NM_001145104.1:c.200A>T	NP_001138576.1:p.Asp67Val
NM_005902.3:c.785A>T	NP_005893.1:p.Asp262Val
XM_011521559.1:c.653A>T	XP_011519861.1:p.Asp218Val
XM_011521560.1:c.638A>T	XP_011519862.1:p.Asp213Val
XM_011521559.3:c.653A>T	XP_011519861.1:p.Asp218Val
NM_005902.4:c.785A>T MANE Select	NP_005893.1:p.Asp262Val
NM_001145102.2:c.470A>T	NP_001138574.1:p.Asp157Val
NM_001145103.2:c.653A>T	NP_001138575.1:p.Asp218Val
NM_001145104.2:c.200A>T	NP_001138576.1:p.Asp67Val