Canonical Allele Identifier: CA062250

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 838401
• ClinVar RCV Id: RCV001039941 ; RCV002479255 ; RCV003226997
• dbSNP Id: rs751860407
• ExAC: 15:67457638 T / C
• gnomAD v2: 15-67457638-T-C
• gnomAD v4: 15-67165300-T-C
• MyVariant Identifiers: chr15:g.67457638T>C (hg19) ; chr15:g.67165300T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165300T>C , CM000677.2:g.67165300T>C	GRCh38
NC_000015.9:g.67457638T>C , CM000677.1:g.67457638T>C	GRCh37
NC_000015.8:g.65244692T>C	NCBI36
NG_011990.1:g.104444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.133T>C	ENSP00000453684.2:p.Phe45Leu
ENST00000559460.6:c.133T>C	ENSP00000453082.2:p.Phe45Leu
ENST00000560424.2:c.448T>C	ENSP00000455540.2:p.Phe150Leu
ENST00000327367.9:c.448T>C MANE Select	ENSP00000332973.4:p.Phe150Leu
ENST00000679624.1:c.133T>C	ENSP00000505445.1:p.Phe45Leu
ENST00000681239.1:c.133T>C	ENSP00000505641.1:p.Phe45Leu
ENST00000327367.8:c.448T>C	ENSP00000332973.4:p.Phe150Leu
ENST00000439724.7:c.316T>C	ENSP00000401133.3:p.Phe106Leu
ENST00000540846.6:c.133T>C	ENSP00000437757.2:p.Phe45Leu
ENST00000558739.1:c.133T>C	ENSP00000453684.1:p.Phe45Leu
ENST00000558894.5:c.133T>C	ENSP00000458060.1:p.Phe45Leu
ENST00000559460.5:c.133T>C	ENSP00000453082.1:p.Phe45Leu
ENST00000559937.1:n.298T>C
ENST00000560175.5:c.133T>C	ENSP00000455095.1:p.Phe45Leu
NM_001145102.1:c.133T>C	NP_001138574.1:p.Phe45Leu
NM_001145103.1:c.316T>C	NP_001138575.1:p.Phe106Leu
NM_005902.3:c.448T>C	NP_005893.1:p.Phe150Leu
XM_011521559.1:c.400+212T>C	XP_011519861.1:n.400+212T>C
XM_011521560.1:c.301T>C	XP_011519862.1:p.Phe101Leu
XM_011521559.3:c.400+212T>C	XP_011519861.1:n.400+212T>C
NM_005902.4:c.448T>C MANE Select	NP_005893.1:p.Phe150Leu
NM_001145102.2:c.133T>C	NP_001138574.1:p.Phe45Leu
NM_001145103.2:c.316T>C	NP_001138575.1:p.Phe106Leu