Canonical Allele Identifier: CA490916651

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 745289
• ClinVar RCV Id: RCV001495755 ; RCV004003192
• dbSNP Id: rs34188464
• MyVariant Identifiers: chr15:g.67477198A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184860A>G , CM000677.2:g.67184860A>G	GRCh38
NC_000015.9:g.67477198A>G , CM000677.1:g.67477198A>G	GRCh37
NC_000015.8:g.65264252A>G	NCBI36
NG_011990.1:g.124004A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.420A>G	ENSP00000454165.2:p.Pro140=
ENST00000558739.2:c.690A>G	ENSP00000453684.2:p.Pro230=
ENST00000558827.2:c.420A>G	ENSP00000452767.2:p.Pro140=
ENST00000559460.6:c.690A>G	ENSP00000453082.2:p.Pro230=
ENST00000560424.2:c.1005A>G	ENSP00000455540.2:p.Pro335=
ENST00000327367.9:c.1005A>G MANE Select	ENSP00000332973.4:p.Pro335=
ENST00000679624.1:c.690A>G	ENSP00000505445.1:p.Pro230=
ENST00000680689.1:n.708A>G
ENST00000681239.1:c.690A>G	ENSP00000505641.1:p.Pro230=
ENST00000327367.8:c.1005A>G	ENSP00000332973.4:p.Pro335=
ENST00000439724.7:c.873A>G	ENSP00000401133.3:p.Pro291=
ENST00000537194.6:c.420A>G	ENSP00000445348.2:p.Pro140=
ENST00000540846.6:c.690A>G	ENSP00000437757.2:p.Pro230=
ENST00000558894.5:c.557-2505A>G	ENSP00000458060.1:n.557-2505A>G
ENST00000560402.1:n.283-8013A>G
ENST00000560424.1:c.86A>G
NM_001145102.1:c.690A>G	NP_001138574.1:p.Pro230=
NM_001145103.1:c.873A>G	NP_001138575.1:p.Pro291=
NM_001145104.1:c.420A>G	NP_001138576.1:p.Pro140=
NM_005902.3:c.1005A>G	NP_005893.1:p.Pro335=
XM_011521559.1:c.873A>G	XP_011519861.1:p.Pro291=
XM_011521560.1:c.858A>G	XP_011519862.1:p.Pro286=
XM_011521559.3:c.873A>G	XP_011519861.1:p.Pro291=
NM_005902.4:c.1005A>G MANE Select	NP_005893.1:p.Pro335=
NM_001145102.2:c.690A>G	NP_001138574.1:p.Pro230=
NM_001145103.2:c.873A>G	NP_001138575.1:p.Pro291=
NM_001145104.2:c.420A>G	NP_001138576.1:p.Pro140=