Canonical Allele Identifier: CA490917403

Gene: SMAD3

Linked Data

• dbSNP Id: rs1567003440
• MyVariant Identifiers: chr15:g.67479713G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187375G>C , CM000677.2:g.67187375G>C	GRCh38
NC_000015.9:g.67479713G>C , CM000677.1:g.67479713G>C	GRCh37
NC_000015.8:g.65266767G>C	NCBI36
NG_011990.1:g.126519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.435G>C	ENSP00000454165.2:p.Leu145=
ENST00000558739.2:c.705G>C	ENSP00000453684.2:p.Leu235=
ENST00000558827.2:c.435G>C	ENSP00000452767.2:p.Leu145=
ENST00000559460.6:c.705G>C	ENSP00000453082.2:p.Leu235=
ENST00000560424.2:c.1131G>C	ENSP00000455540.2:p.Leu377=
ENST00000327367.9:c.1020G>C MANE Select	ENSP00000332973.4:p.Leu340=
ENST00000679624.1:c.705G>C	ENSP00000505445.1:p.Leu235=
ENST00000680689.1:n.723G>C
ENST00000681239.1:c.705G>C	ENSP00000505641.1:p.Leu235=
ENST00000327367.8:c.1020G>C	ENSP00000332973.4:p.Leu340=
ENST00000439724.7:c.888G>C	ENSP00000401133.3:p.Leu296=
ENST00000537194.6:c.435G>C	ENSP00000445348.2:p.Leu145=
ENST00000540846.6:c.705G>C	ENSP00000437757.2:p.Leu235=
ENST00000558763.1:n.714G>C
ENST00000558894.5:c.567G>C	ENSP00000458060.1:p.Leu189=
ENST00000560402.1:n.283-5498G>C
ENST00000560424.1:c.212G>C
NM_001145102.1:c.705G>C	NP_001138574.1:p.Leu235=
NM_001145103.1:c.888G>C	NP_001138575.1:p.Leu296=
NM_001145104.1:c.435G>C	NP_001138576.1:p.Leu145=
NM_005902.3:c.1020G>C	NP_005893.1:p.Leu340=
XM_011521559.1:c.888G>C	XP_011519861.1:p.Leu296=
XM_011521560.1:c.873G>C	XP_011519862.1:p.Leu291=
XM_011521559.3:c.888G>C	XP_011519861.1:p.Leu296=
NM_005902.4:c.1020G>C MANE Select	NP_005893.1:p.Leu340=
NM_001145102.2:c.705G>C	NP_001138574.1:p.Leu235=
NM_001145103.2:c.888G>C	NP_001138575.1:p.Leu296=
NM_001145104.2:c.435G>C	NP_001138576.1:p.Leu145=