Canonical Allele Identifier: CA392953441

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1024570
• ClinVar RCV Id: RCV001324771
• dbSNP Id: rs1262859970
• MyVariant Identifiers: chr15:g.67457238T>C (hg19) ; chr15:g.67164900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164900T>C , CM000677.2:g.67164900T>C	GRCh38
NC_000015.9:g.67457238T>C , CM000677.1:g.67457238T>C	GRCh37
NC_000015.8:g.65244292T>C	NCBI36
NG_011990.1:g.104044T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-104T>C	ENSP00000453684.2:n.-104T>C
ENST00000559460.6:c.-104T>C	ENSP00000453082.2:n.-104T>C
ENST00000560424.2:c.212T>C	ENSP00000455540.2:p.Leu71Pro
ENST00000327367.9:c.212T>C MANE Select	ENSP00000332973.4:p.Leu71Pro
ENST00000679624.1:c.-104T>C	ENSP00000505445.1:n.-104T>C
ENST00000681239.1:c.-104T>C	ENSP00000505641.1:n.-104T>C
ENST00000327367.8:c.212T>C	ENSP00000332973.4:p.Leu71Pro
ENST00000439724.7:c.80T>C	ENSP00000401133.3:p.Leu27Pro
ENST00000540846.6:c.-104T>C	ENSP00000437757.2:n.-104T>C
ENST00000558739.1:c.-104T>C	ENSP00000453684.1:n.-104T>C
ENST00000558894.5:c.-104T>C	ENSP00000458060.1:n.-104T>C
ENST00000559092.1:c.157T>C	ENSP00000453788.1:p.Trp53Arg
ENST00000559460.5:c.-104T>C	ENSP00000453082.1:n.-104T>C
ENST00000559937.1:n.62T>C
ENST00000560175.5:c.-104T>C	ENSP00000455095.1:n.-104T>C
NM_001145102.1:c.-104T>C	NP_001138574.1:n.-104T>C
NM_001145103.1:c.80T>C	NP_001138575.1:p.Leu27Pro
NM_005902.3:c.212T>C	NP_005893.1:p.Leu71Pro
XM_011521559.1:c.212T>C	XP_011519861.1:p.Leu71Pro
XM_011521560.1:c.65T>C	XP_011519862.1:p.Leu22Pro
XM_011521559.3:c.212T>C	XP_011519861.1:p.Leu71Pro
NM_005902.4:c.212T>C MANE Select	NP_005893.1:p.Leu71Pro
NM_001145102.2:c.-104T>C	NP_001138574.1:n.-104T>C
NM_001145103.2:c.80T>C	NP_001138575.1:p.Leu27Pro