Canonical Allele Identifier: CA392957301

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 520187
• ClinVar RCV Id: RCV002315228
• dbSNP Id: rs1555414028
• MyVariant Identifiers: chr15:g.67477185T>A (hg19) ; chr15:g.67184847T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184847T>A , CM000677.2:g.67184847T>A	GRCh38
NC_000015.9:g.67477185T>A , CM000677.1:g.67477185T>A	GRCh37
NC_000015.8:g.65264239T>A	NCBI36
NG_011990.1:g.123991T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.407T>A	ENSP00000454165.2:p.Val136Asp
ENST00000558739.2:c.677T>A	ENSP00000453684.2:p.Val226Asp
ENST00000558827.2:c.407T>A	ENSP00000452767.2:p.Val136Asp
ENST00000559460.6:c.677T>A	ENSP00000453082.2:p.Val226Asp
ENST00000560424.2:c.992T>A	ENSP00000455540.2:p.Val331Asp
ENST00000327367.9:c.992T>A MANE Select	ENSP00000332973.4:p.Val331Asp
ENST00000679624.1:c.677T>A	ENSP00000505445.1:p.Val226Asp
ENST00000680689.1:n.695T>A
ENST00000681239.1:c.677T>A	ENSP00000505641.1:p.Val226Asp
ENST00000327367.8:c.992T>A	ENSP00000332973.4:p.Val331Asp
ENST00000439724.7:c.860T>A	ENSP00000401133.3:p.Val287Asp
ENST00000537194.6:c.407T>A	ENSP00000445348.2:p.Val136Asp
ENST00000540846.6:c.677T>A	ENSP00000437757.2:p.Val226Asp
ENST00000558894.5:c.557-2518T>A	ENSP00000458060.1:n.557-2518T>A
ENST00000560402.1:n.283-8026T>A
ENST00000560424.1:c.73T>A
NM_001145102.1:c.677T>A	NP_001138574.1:p.Val226Asp
NM_001145103.1:c.860T>A	NP_001138575.1:p.Val287Asp
NM_001145104.1:c.407T>A	NP_001138576.1:p.Val136Asp
NM_005902.3:c.992T>A	NP_005893.1:p.Val331Asp
XM_011521559.1:c.860T>A	XP_011519861.1:p.Val287Asp
XM_011521560.1:c.845T>A	XP_011519862.1:p.Val282Asp
XM_011521559.3:c.860T>A	XP_011519861.1:p.Val287Asp
NM_005902.4:c.992T>A MANE Select	NP_005893.1:p.Val331Asp
NM_001145102.2:c.677T>A	NP_001138574.1:p.Val226Asp
NM_001145103.2:c.860T>A	NP_001138575.1:p.Val287Asp
NM_001145104.2:c.407T>A	NP_001138576.1:p.Val136Asp