Canonical Allele Identifier: CA020135

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 180524
• ClinVar RCV Id: RCV000157501 ; RCV000197902 ; RCV000660271 ; RCV001198563 ; RCV001798527
• dbSNP Id: rs730880214
• gnomAD v4: 15-67181442-G-A
• MyVariant Identifiers: chr15:g.67473780G>A (hg19) ; chr15:g.67181442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181442G>A , CM000677.2:g.67181442G>A	GRCh38
NC_000015.9:g.67473780G>A , CM000677.1:g.67473780G>A	GRCh37
NC_000015.8:g.65260834G>A	NCBI36
NG_011990.1:g.120586G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.275G>A	ENSP00000454165.2:p.Arg92Gln
ENST00000558739.2:c.545G>A	ENSP00000453684.2:p.Arg182Gln
ENST00000558827.2:c.275G>A	ENSP00000452767.2:p.Arg92Gln
ENST00000559460.6:c.545G>A	ENSP00000453082.2:p.Arg182Gln
ENST00000560424.2:c.860G>A	ENSP00000455540.2:p.Arg287Gln
ENST00000327367.9:c.860G>A MANE Select	ENSP00000332973.4:p.Arg287Gln
ENST00000679624.1:c.545G>A	ENSP00000505445.1:p.Arg182Gln
ENST00000680689.1:n.563G>A
ENST00000681239.1:c.545G>A	ENSP00000505641.1:p.Arg182Gln
ENST00000327367.8:c.860G>A	ENSP00000332973.4:p.Arg287Gln
ENST00000439724.7:c.728G>A	ENSP00000401133.3:p.Arg243Gln
ENST00000537194.6:c.275G>A	ENSP00000445348.2:p.Arg92Gln
ENST00000540846.6:c.545G>A	ENSP00000437757.2:p.Arg182Gln
ENST00000558827.1:c.275G>A	ENSP00000452767.1:p.Arg92Gln
ENST00000558894.5:c.545G>A	ENSP00000458060.1:p.Arg182Gln
ENST00000560402.1:n.282+6858G>A
NM_001145102.1:c.545G>A	NP_001138574.1:p.Arg182Gln
NM_001145103.1:c.728G>A	NP_001138575.1:p.Arg243Gln
NM_001145104.1:c.275G>A	NP_001138576.1:p.Arg92Gln
NM_005902.3:c.860G>A	NP_005893.1:p.Arg287Gln
XM_011521559.1:c.728G>A	XP_011519861.1:p.Arg243Gln
XM_011521560.1:c.713G>A	XP_011519862.1:p.Arg238Gln
XM_011521559.3:c.728G>A	XP_011519861.1:p.Arg243Gln
NM_005902.4:c.860G>A MANE Select	NP_005893.1:p.Arg287Gln
NM_001145102.2:c.545G>A	NP_001138574.1:p.Arg182Gln
NM_001145103.2:c.728G>A	NP_001138575.1:p.Arg243Gln
NM_001145104.2:c.275G>A	NP_001138576.1:p.Arg92Gln