Canonical Allele Identifier: CA392958207

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1353830
• ClinVar RCV Id: RCV001863621
• dbSNP Id: rs2140323584
• gnomAD v4: 15-67187435-T-G
• MyVariant Identifiers: chr15:g.67479773T>G (hg19) ; chr15:g.67187435T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187435T>G , CM000677.2:g.67187435T>G	GRCh38
NC_000015.9:g.67479773T>G , CM000677.1:g.67479773T>G	GRCh37
NC_000015.8:g.65266827T>G	NCBI36
NG_011990.1:g.126579T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.495T>G	ENSP00000454165.2:p.Phe165Leu
ENST00000558739.2:c.765T>G	ENSP00000453684.2:p.Phe255Leu
ENST00000558827.2:c.495T>G	ENSP00000452767.2:p.Phe165Leu
ENST00000559460.6:c.765T>G	ENSP00000453082.2:p.Phe255Leu
ENST00000560424.2:c.1191T>G	ENSP00000455540.2:p.Phe397Leu
ENST00000327367.9:c.1080T>G MANE Select	ENSP00000332973.4:p.Phe360Leu
ENST00000679624.1:c.765T>G	ENSP00000505445.1:p.Phe255Leu
ENST00000680689.1:n.783T>G
ENST00000681239.1:c.765T>G	ENSP00000505641.1:p.Phe255Leu
ENST00000327367.8:c.1080T>G	ENSP00000332973.4:p.Phe360Leu
ENST00000439724.7:c.948T>G	ENSP00000401133.3:p.Phe316Leu
ENST00000537194.6:c.495T>G	ENSP00000445348.2:p.Phe165Leu
ENST00000540846.6:c.765T>G	ENSP00000437757.2:p.Phe255Leu
ENST00000558763.1:n.774T>G
ENST00000558894.5:c.627T>G	ENSP00000458060.1:p.Phe209Leu
ENST00000560402.1:n.283-5438T>G
ENST00000560424.1:c.272T>G
NM_001145102.1:c.765T>G	NP_001138574.1:p.Phe255Leu
NM_001145103.1:c.948T>G	NP_001138575.1:p.Phe316Leu
NM_001145104.1:c.495T>G	NP_001138576.1:p.Phe165Leu
NM_005902.3:c.1080T>G	NP_005893.1:p.Phe360Leu
XM_011521559.1:c.948T>G	XP_011519861.1:p.Phe316Leu
XM_011521560.1:c.933T>G	XP_011519862.1:p.Phe311Leu
XM_011521559.3:c.948T>G	XP_011519861.1:p.Phe316Leu
NM_005902.4:c.1080T>G MANE Select	NP_005893.1:p.Phe360Leu
NM_001145102.2:c.765T>G	NP_001138574.1:p.Phe255Leu
NM_001145103.2:c.948T>G	NP_001138575.1:p.Phe316Leu
NM_001145104.2:c.495T>G	NP_001138576.1:p.Phe165Leu