Canonical Allele Identifier: CA323714

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 213762
• ClinVar RCV Id: RCV000199185 ; RCV000701533
• dbSNP Id: rs863223737
• gnomAD v4: 15-67181315-G-A
• COSMIC: COSM4168906 ; COSM4168907
• MyVariant Identifiers: chr15:g.67473653G>A (hg19) ; chr15:g.67181315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181315G>A , CM000677.2:g.67181315G>A	GRCh38
NC_000015.9:g.67473653G>A , CM000677.1:g.67473653G>A	GRCh37
NC_000015.8:g.65260707G>A	NCBI36
NG_011990.1:g.120459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.148G>A	ENSP00000454165.2:p.Gly50Arg
ENST00000558739.2:c.418G>A	ENSP00000453684.2:p.Gly140Arg
ENST00000558827.2:c.148G>A	ENSP00000452767.2:p.Gly50Arg
ENST00000559460.6:c.418G>A	ENSP00000453082.2:p.Gly140Arg
ENST00000560424.2:c.733G>A	ENSP00000455540.2:p.Gly245Arg
ENST00000327367.9:c.733G>A MANE Select	ENSP00000332973.4:p.Gly245Arg
ENST00000679624.1:c.418G>A	ENSP00000505445.1:p.Gly140Arg
ENST00000680689.1:n.436G>A
ENST00000681239.1:c.418G>A	ENSP00000505641.1:p.Gly140Arg
ENST00000327367.8:c.733G>A	ENSP00000332973.4:p.Gly245Arg
ENST00000439724.7:c.601G>A	ENSP00000401133.3:p.Gly201Arg
ENST00000537194.6:c.148G>A	ENSP00000445348.2:p.Gly50Arg
ENST00000540846.6:c.418G>A	ENSP00000437757.2:p.Gly140Arg
ENST00000558428.5:c.148G>A	ENSP00000454165.1:p.Gly50Arg
ENST00000558827.1:c.148G>A	ENSP00000452767.1:p.Gly50Arg
ENST00000558894.5:c.418G>A	ENSP00000458060.1:p.Gly140Arg
ENST00000560402.1:n.282+6731G>A
NM_001145102.1:c.418G>A	NP_001138574.1:p.Gly140Arg
NM_001145103.1:c.601G>A	NP_001138575.1:p.Gly201Arg
NM_001145104.1:c.148G>A	NP_001138576.1:p.Gly50Arg
NM_005902.3:c.733G>A	NP_005893.1:p.Gly245Arg
XM_011521559.1:c.601G>A	XP_011519861.1:p.Gly201Arg
XM_011521560.1:c.586G>A	XP_011519862.1:p.Gly196Arg
XM_011521559.3:c.601G>A	XP_011519861.1:p.Gly201Arg
NM_005902.4:c.733G>A MANE Select	NP_005893.1:p.Gly245Arg
NM_001145102.2:c.418G>A	NP_001138574.1:p.Gly140Arg
NM_001145103.2:c.601G>A	NP_001138575.1:p.Gly201Arg
NM_001145104.2:c.148G>A	NP_001138576.1:p.Gly50Arg