Canonical Allele Identifier: CA323010

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2152248
• ClinVar RCV Id: RCV003061616
• dbSNP Id: rs1555412140

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165344dup , CM000677.2:g.67165344dup	GRCh38
NC_000015.9:g.67457682dup , CM000677.1:g.67457682dup	GRCh37
NC_000015.8:g.65244736dup	NCBI36
NG_011990.1:g.104488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.177dup	ENSP00000453684.2:p.Asn60Ter
ENST00000559460.6:c.177dup	ENSP00000453082.2:p.Asn60Ter
ENST00000560424.2:c.492dup	ENSP00000455540.2:p.Asn165Ter
ENST00000327367.9:c.492dup MANE Select	ENSP00000332973.4:p.Asn165Ter
ENST00000679624.1:c.177dup	ENSP00000505445.1:p.Asn60Ter
ENST00000681239.1:c.177dup	ENSP00000505641.1:p.Asn60Ter
ENST00000327367.8:c.492dup	ENSP00000332973.4:p.Asn165Ter
ENST00000439724.7:c.360dup	ENSP00000401133.3:p.Asn121Ter
ENST00000540846.6:c.177dup	ENSP00000437757.2:p.Asn60Ter
ENST00000558739.1:c.177dup	ENSP00000453684.1:p.Asn60Ter
ENST00000558894.5:c.177dup	ENSP00000458060.1:p.Asn60Ter
ENST00000559460.5:c.177dup	ENSP00000453082.1:p.Asn60Ter
ENST00000559937.1:n.342dup
ENST00000560175.5:c.177dup	ENSP00000455095.1:p.Asn60Ter
NM_001145102.1:c.177dup	NP_001138574.1:p.Asn60Ter
NM_001145103.1:c.360dup	NP_001138575.1:p.Asn121Ter
NM_005902.3:c.492dup	NP_005893.1:p.Asn165Ter
XM_011521559.1:c.400+256dup	XP_011519861.1:n.400+256dup
XM_011521560.1:c.345dup	XP_011519862.1:p.Asn116Ter
XM_011521559.3:c.400+256dup	XP_011519861.1:n.400+256dup
NM_005902.4:c.492dup MANE Select	NP_005893.1:p.Asn165Ter
NM_001145102.2:c.177dup	NP_001138574.1:p.Asn60Ter
NM_001145103.2:c.360dup	NP_001138575.1:p.Asn121Ter