Canonical Allele Identifier: CA392958287

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 654976
• ClinVar RCV Id: RCV000811050
• dbSNP Id: rs863223746
• MyVariant Identifiers: chr15:g.67479810C>A (hg19) ; chr15:g.67187472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187472C>A , CM000677.2:g.67187472C>A	GRCh38
NC_000015.9:g.67479810C>A , CM000677.1:g.67479810C>A	GRCh37
NC_000015.8:g.65266864C>A	NCBI36
NG_011990.1:g.126616C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.532C>A	ENSP00000454165.2:p.Arg178Ser
ENST00000558739.2:c.802C>A	ENSP00000453684.2:p.Arg268Ser
ENST00000558827.2:c.532C>A	ENSP00000452767.2:p.Arg178Ser
ENST00000559460.6:c.802C>A	ENSP00000453082.2:p.Arg268Ser
ENST00000560424.2:c.1228C>A	ENSP00000455540.2:p.Arg410Ser
ENST00000327367.9:c.1117C>A MANE Select	ENSP00000332973.4:p.Arg373Ser
ENST00000679624.1:c.802C>A	ENSP00000505445.1:p.Arg268Ser
ENST00000680689.1:n.820C>A
ENST00000681239.1:c.802C>A	ENSP00000505641.1:p.Arg268Ser
ENST00000327367.8:c.1117C>A	ENSP00000332973.4:p.Arg373Ser
ENST00000439724.7:c.985C>A	ENSP00000401133.3:p.Arg329Ser
ENST00000537194.6:c.532C>A	ENSP00000445348.2:p.Arg178Ser
ENST00000540846.6:c.802C>A	ENSP00000437757.2:p.Arg268Ser
ENST00000558763.1:n.811C>A
ENST00000560402.1:n.283-5401C>A
ENST00000560424.1:c.309C>A
NM_001145102.1:c.802C>A	NP_001138574.1:p.Arg268Ser
NM_001145103.1:c.985C>A	NP_001138575.1:p.Arg329Ser
NM_001145104.1:c.532C>A	NP_001138576.1:p.Arg178Ser
NM_005902.3:c.1117C>A	NP_005893.1:p.Arg373Ser
XM_011521559.1:c.985C>A	XP_011519861.1:p.Arg329Ser
XM_011521560.1:c.970C>A	XP_011519862.1:p.Arg324Ser
XM_011521559.3:c.985C>A	XP_011519861.1:p.Arg329Ser
NM_005902.4:c.1117C>A MANE Select	NP_005893.1:p.Arg373Ser
NM_001145102.2:c.802C>A	NP_001138574.1:p.Arg268Ser
NM_001145103.2:c.985C>A	NP_001138575.1:p.Arg329Ser
NM_001145104.2:c.532C>A	NP_001138576.1:p.Arg178Ser