Canonical Allele Identifier: CA490917604

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1702279
• ClinVar RCV Id: RCV002278069 ; RCV004005581
• dbSNP Id: rs756181827
• gnomAD v2: 15-67479758-G-T
• gnomAD v4: 15-67187420-G-T
• MyVariant Identifiers: chr15:g.67479758G>T (hg19) ; chr15:g.67187420G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187420G>T , CM000677.2:g.67187420G>T	GRCh38
NC_000015.9:g.67479758G>T , CM000677.1:g.67479758G>T	GRCh37
NC_000015.8:g.65266812G>T	NCBI36
NG_011990.1:g.126564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.480G>T	ENSP00000454165.2:p.Ser160=
ENST00000558739.2:c.750G>T	ENSP00000453684.2:p.Ser250=
ENST00000558827.2:c.480G>T	ENSP00000452767.2:p.Ser160=
ENST00000559460.6:c.750G>T	ENSP00000453082.2:p.Ser250=
ENST00000560424.2:c.1176G>T	ENSP00000455540.2:p.Ser392=
ENST00000327367.9:c.1065G>T MANE Select	ENSP00000332973.4:p.Ser355=
ENST00000679624.1:c.750G>T	ENSP00000505445.1:p.Ser250=
ENST00000680689.1:n.768G>T
ENST00000681239.1:c.750G>T	ENSP00000505641.1:p.Ser250=
ENST00000327367.8:c.1065G>T	ENSP00000332973.4:p.Ser355=
ENST00000439724.7:c.933G>T	ENSP00000401133.3:p.Ser311=
ENST00000537194.6:c.480G>T	ENSP00000445348.2:p.Ser160=
ENST00000540846.6:c.750G>T	ENSP00000437757.2:p.Ser250=
ENST00000558763.1:n.759G>T
ENST00000558894.5:c.612G>T	ENSP00000458060.1:p.Ser204=
ENST00000560402.1:n.283-5453G>T
ENST00000560424.1:c.257G>T
NM_001145102.1:c.750G>T	NP_001138574.1:p.Ser250=
NM_001145103.1:c.933G>T	NP_001138575.1:p.Ser311=
NM_001145104.1:c.480G>T	NP_001138576.1:p.Ser160=
NM_005902.3:c.1065G>T	NP_005893.1:p.Ser355=
XM_011521559.1:c.933G>T	XP_011519861.1:p.Ser311=
XM_011521560.1:c.918G>T	XP_011519862.1:p.Ser306=
XM_011521559.3:c.933G>T	XP_011519861.1:p.Ser311=
NM_005902.4:c.1065G>T MANE Select	NP_005893.1:p.Ser355=
NM_001145102.2:c.750G>T	NP_001138574.1:p.Ser250=
NM_001145103.2:c.933G>T	NP_001138575.1:p.Ser311=
NM_001145104.2:c.480G>T	NP_001138576.1:p.Ser160=