Canonical Allele Identifier: CA322183

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 213770
• ClinVar RCV Id: RCV000197722 ; RCV003528152
• dbSNP Id: rs863223744
• gnomAD v4: 15-67184735-G-A
• COSMIC: COSM1629656 ; COSM1629657
• MyVariant Identifiers: chr15:g.67477073G>A (hg19) ; chr15:g.67184735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184735G>A , CM000677.2:g.67184735G>A	GRCh38
NC_000015.9:g.67477073G>A , CM000677.1:g.67477073G>A	GRCh37
NC_000015.8:g.65264127G>A	NCBI36
NG_011990.1:g.123879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.295G>A	ENSP00000454165.2:p.Val99Met
ENST00000558739.2:c.565G>A	ENSP00000453684.2:p.Val189Met
ENST00000558827.2:c.295G>A	ENSP00000452767.2:p.Val99Met
ENST00000559460.6:c.565G>A	ENSP00000453082.2:p.Val189Met
ENST00000560424.2:c.880G>A	ENSP00000455540.2:p.Val294Met
ENST00000327367.9:c.880G>A MANE Select	ENSP00000332973.4:p.Val294Met
ENST00000679624.1:c.565G>A	ENSP00000505445.1:p.Val189Met
ENST00000680689.1:n.583G>A
ENST00000681239.1:c.565G>A	ENSP00000505641.1:p.Val189Met
ENST00000327367.8:c.880G>A	ENSP00000332973.4:p.Val294Met
ENST00000439724.7:c.748G>A	ENSP00000401133.3:p.Val250Met
ENST00000537194.6:c.295G>A	ENSP00000445348.2:p.Val99Met
ENST00000540846.6:c.565G>A	ENSP00000437757.2:p.Val189Met
ENST00000558827.1:c.295G>A	ENSP00000452767.1:p.Val99Met
ENST00000558894.5:c.557-2630G>A	ENSP00000458060.1:n.557-2630G>A
ENST00000560402.1:n.283-8138G>A
NM_001145102.1:c.565G>A	NP_001138574.1:p.Val189Met
NM_001145103.1:c.748G>A	NP_001138575.1:p.Val250Met
NM_001145104.1:c.295G>A	NP_001138576.1:p.Val99Met
NM_005902.3:c.880G>A	NP_005893.1:p.Val294Met
XM_011521559.1:c.748G>A	XP_011519861.1:p.Val250Met
XM_011521560.1:c.733G>A	XP_011519862.1:p.Val245Met
XM_011521559.3:c.748G>A	XP_011519861.1:p.Val250Met
NM_005902.4:c.880G>A MANE Select	NP_005893.1:p.Val294Met
NM_001145102.2:c.565G>A	NP_001138574.1:p.Val189Met
NM_001145103.2:c.748G>A	NP_001138575.1:p.Val250Met
NM_001145104.2:c.295G>A	NP_001138576.1:p.Val99Met