Canonical Allele Identifier: CA392958302

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2101483
• ClinVar RCV Id: RCV003037452 ; RCV003491192
• MyVariant Identifiers: chr15:g.67479817G>T (hg19) ; chr15:g.67187479G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187479G>T , CM000677.2:g.67187479G>T	GRCh38
NC_000015.9:g.67479817G>T , CM000677.1:g.67479817G>T	GRCh37
NC_000015.8:g.65266871G>T	NCBI36
NG_011990.1:g.126623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.539G>T	ENSP00000454165.2:p.Ser180Ile
ENST00000558739.2:c.809G>T	ENSP00000453684.2:p.Ser270Ile
ENST00000558827.2:c.539G>T	ENSP00000452767.2:p.Ser180Ile
ENST00000559460.6:c.809G>T	ENSP00000453082.2:p.Ser270Ile
ENST00000560424.2:c.1235G>T	ENSP00000455540.2:p.Ser412Ile
ENST00000327367.9:c.1124G>T MANE Select	ENSP00000332973.4:p.Ser375Ile
ENST00000679624.1:c.809G>T	ENSP00000505445.1:p.Ser270Ile
ENST00000680689.1:n.827G>T
ENST00000681239.1:c.809G>T	ENSP00000505641.1:p.Ser270Ile
ENST00000327367.8:c.1124G>T	ENSP00000332973.4:p.Ser375Ile
ENST00000439724.7:c.992G>T	ENSP00000401133.3:p.Ser331Ile
ENST00000537194.6:c.539G>T	ENSP00000445348.2:p.Ser180Ile
ENST00000540846.6:c.809G>T	ENSP00000437757.2:p.Ser270Ile
ENST00000558763.1:n.818G>T
ENST00000560402.1:n.283-5394G>T
ENST00000560424.1:c.316G>T
NM_001145102.1:c.809G>T	NP_001138574.1:p.Ser270Ile
NM_001145103.1:c.992G>T	NP_001138575.1:p.Ser331Ile
NM_001145104.1:c.539G>T	NP_001138576.1:p.Ser180Ile
NM_005902.3:c.1124G>T	NP_005893.1:p.Ser375Ile
XM_011521559.1:c.992G>T	XP_011519861.1:p.Ser331Ile
XM_011521560.1:c.977G>T	XP_011519862.1:p.Ser326Ile
XM_011521559.3:c.992G>T	XP_011519861.1:p.Ser331Ile
NM_005902.4:c.1124G>T MANE Select	NP_005893.1:p.Ser375Ile
NM_001145102.2:c.809G>T	NP_001138574.1:p.Ser270Ile
NM_001145103.2:c.992G>T	NP_001138575.1:p.Ser331Ile
NM_001145104.2:c.539G>T	NP_001138576.1:p.Ser180Ile