Canonical Allele Identifier: CA392957298

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1044963
• ClinVar RCV Id: RCV001349296
• dbSNP Id: rs1320208623
• gnomAD v2: 15-67477184-G-A
• gnomAD v3: 15-67184846-G-A
• gnomAD v4: 15-67184846-G-A
• COSMIC: COSM303245 ; COSM1152862
• MyVariant Identifiers: chr15:g.67477184G>A (hg19) ; chr15:g.67184846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184846G>A , CM000677.2:g.67184846G>A	GRCh38
NC_000015.9:g.67477184G>A , CM000677.1:g.67477184G>A	GRCh37
NC_000015.8:g.65264238G>A	NCBI36
NG_011990.1:g.123990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.406G>A	ENSP00000454165.2:p.Val136Ile
ENST00000558739.2:c.676G>A	ENSP00000453684.2:p.Val226Ile
ENST00000558827.2:c.406G>A	ENSP00000452767.2:p.Val136Ile
ENST00000559460.6:c.676G>A	ENSP00000453082.2:p.Val226Ile
ENST00000560424.2:c.991G>A	ENSP00000455540.2:p.Val331Ile
ENST00000327367.9:c.991G>A MANE Select	ENSP00000332973.4:p.Val331Ile
ENST00000679624.1:c.676G>A	ENSP00000505445.1:p.Val226Ile
ENST00000680689.1:n.694G>A
ENST00000681239.1:c.676G>A	ENSP00000505641.1:p.Val226Ile
ENST00000327367.8:c.991G>A	ENSP00000332973.4:p.Val331Ile
ENST00000439724.7:c.859G>A	ENSP00000401133.3:p.Val287Ile
ENST00000537194.6:c.406G>A	ENSP00000445348.2:p.Val136Ile
ENST00000540846.6:c.676G>A	ENSP00000437757.2:p.Val226Ile
ENST00000558894.5:c.557-2519G>A	ENSP00000458060.1:n.557-2519G>A
ENST00000560402.1:n.283-8027G>A
ENST00000560424.1:c.72G>A
NM_001145102.1:c.676G>A	NP_001138574.1:p.Val226Ile
NM_001145103.1:c.859G>A	NP_001138575.1:p.Val287Ile
NM_001145104.1:c.406G>A	NP_001138576.1:p.Val136Ile
NM_005902.3:c.991G>A	NP_005893.1:p.Val331Ile
XM_011521559.1:c.859G>A	XP_011519861.1:p.Val287Ile
XM_011521560.1:c.844G>A	XP_011519862.1:p.Val282Ile
XM_011521559.3:c.859G>A	XP_011519861.1:p.Val287Ile
NM_005902.4:c.991G>A MANE Select	NP_005893.1:p.Val331Ile
NM_001145102.2:c.676G>A	NP_001138574.1:p.Val226Ile
NM_001145103.2:c.859G>A	NP_001138575.1:p.Val287Ile
NM_001145104.2:c.406G>A	NP_001138576.1:p.Val136Ile