Canonical Allele Identifier: CA392958222

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2819643
• ClinVar RCV Id: RCV003643805
• MyVariant Identifiers: chr15:g.67479781T>C (hg19) ; chr15:g.67187443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187443T>C , CM000677.2:g.67187443T>C	GRCh38
NC_000015.9:g.67479781T>C , CM000677.1:g.67479781T>C	GRCh37
NC_000015.8:g.65266835T>C	NCBI36
NG_011990.1:g.126587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.503T>C	ENSP00000454165.2:p.Val168Ala
ENST00000558739.2:c.773T>C	ENSP00000453684.2:p.Val258Ala
ENST00000558827.2:c.503T>C	ENSP00000452767.2:p.Val168Ala
ENST00000559460.6:c.773T>C	ENSP00000453082.2:p.Val258Ala
ENST00000560424.2:c.1199T>C	ENSP00000455540.2:p.Val400Ala
ENST00000327367.9:c.1088T>C MANE Select	ENSP00000332973.4:p.Val363Ala
ENST00000679624.1:c.773T>C	ENSP00000505445.1:p.Val258Ala
ENST00000680689.1:n.791T>C
ENST00000681239.1:c.773T>C	ENSP00000505641.1:p.Val258Ala
ENST00000327367.8:c.1088T>C	ENSP00000332973.4:p.Val363Ala
ENST00000439724.7:c.956T>C	ENSP00000401133.3:p.Val319Ala
ENST00000537194.6:c.503T>C	ENSP00000445348.2:p.Val168Ala
ENST00000540846.6:c.773T>C	ENSP00000437757.2:p.Val258Ala
ENST00000558763.1:n.782T>C
ENST00000558894.5:c.635T>C	ENSP00000458060.1:p.Val212Ala
ENST00000560402.1:n.283-5430T>C
ENST00000560424.1:c.280T>C
NM_001145102.1:c.773T>C	NP_001138574.1:p.Val258Ala
NM_001145103.1:c.956T>C	NP_001138575.1:p.Val319Ala
NM_001145104.1:c.503T>C	NP_001138576.1:p.Val168Ala
NM_005902.3:c.1088T>C	NP_005893.1:p.Val363Ala
XM_011521559.1:c.956T>C	XP_011519861.1:p.Val319Ala
XM_011521560.1:c.941T>C	XP_011519862.1:p.Val314Ala
XM_011521559.3:c.956T>C	XP_011519861.1:p.Val319Ala
NM_005902.4:c.1088T>C MANE Select	NP_005893.1:p.Val363Ala
NM_001145102.2:c.773T>C	NP_001138574.1:p.Val258Ala
NM_001145103.2:c.956T>C	NP_001138575.1:p.Val319Ala
NM_001145104.2:c.503T>C	NP_001138576.1:p.Val168Ala