Canonical Allele Identifier: CA392957407

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 915688
• ClinVar RCV Id: RCV001170800
• dbSNP Id: rs1963180892
• COSMIC: COSM32690 ; COSM5039312
• MyVariant Identifiers: chr15:g.67477203G>A (hg19) ; chr15:g.67184865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184865G>A , CM000677.2:g.67184865G>A	GRCh38
NC_000015.9:g.67477203G>A , CM000677.1:g.67477203G>A	GRCh37
NC_000015.8:g.65264257G>A	NCBI36
NG_011990.1:g.124009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.424+1G>A	ENSP00000454165.2:n.424+1G>A
ENST00000558739.2:c.694+1G>A	ENSP00000453684.2:n.694+1G>A
ENST00000558827.2:c.424+1G>A	ENSP00000452767.2:n.424+1G>A
ENST00000559460.6:c.694+1G>A	ENSP00000453082.2:n.694+1G>A
ENST00000560424.2:c.1009+1G>A	ENSP00000455540.2:n.1009+1G>A
ENST00000327367.9:c.1009+1G>A MANE Select	ENSP00000332973.4:n.1009+1G>A
ENST00000679624.1:c.694+1G>A	ENSP00000505445.1:n.694+1G>A
ENST00000680689.1:n.712+1G>A
ENST00000681239.1:c.694+1G>A	ENSP00000505641.1:n.694+1G>A
ENST00000327367.8:c.1009+1G>A	ENSP00000332973.4:n.1009+1G>A
ENST00000439724.7:c.877+1G>A	ENSP00000401133.3:n.877+1G>A
ENST00000537194.6:c.424+1G>A	ENSP00000445348.2:n.424+1G>A
ENST00000540846.6:c.694+1G>A	ENSP00000437757.2:n.694+1G>A
ENST00000558894.5:c.557-2500G>A	ENSP00000458060.1:n.557-2500G>A
ENST00000560402.1:n.283-8008G>A
ENST00000560424.1:c.90+1G>A
NM_001145102.1:c.694+1G>A	NP_001138574.1:n.694+1G>A
NM_001145103.1:c.877+1G>A	NP_001138575.1:n.877+1G>A
NM_001145104.1:c.424+1G>A	NP_001138576.1:n.424+1G>A
NM_005902.3:c.1009+1G>A	NP_005893.1:n.1009+1G>A
XM_011521559.1:c.877+1G>A	XP_011519861.1:n.877+1G>A
XM_011521560.1:c.862+1G>A	XP_011519862.1:n.862+1G>A
XM_011521559.3:c.877+1G>A	XP_011519861.1:n.877+1G>A
NM_005902.4:c.1009+1G>A MANE Select	NP_005893.1:n.1009+1G>A
NM_001145102.2:c.694+1G>A	NP_001138574.1:n.694+1G>A
NM_001145103.2:c.877+1G>A	NP_001138575.1:n.877+1G>A
NM_001145104.2:c.424+1G>A	NP_001138576.1:n.424+1G>A