Canonical Allele Identifier: CA392954325

Gene: SMAD3

Linked Data

• dbSNP Id: rs751860407
• gnomAD v4: 15-67165300-T-G
• MyVariant Identifiers: chr15:g.67457638T>G (hg19) ; chr15:g.67165300T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.133T>G	ENSP00000453684.2:p.Phe45Val
ENST00000559460.6:c.133T>G	ENSP00000453082.2:p.Phe45Val
ENST00000560424.2:c.448T>G	ENSP00000455540.2:p.Phe150Val
ENST00000327367.9:c.448T>G MANE Select	ENSP00000332973.4:p.Phe150Val
ENST00000679624.1:c.133T>G	ENSP00000505445.1:p.Phe45Val
ENST00000681239.1:c.133T>G	ENSP00000505641.1:p.Phe45Val
ENST00000327367.8:c.448T>G	ENSP00000332973.4:p.Phe150Val
ENST00000439724.7:c.316T>G	ENSP00000401133.3:p.Phe106Val
ENST00000540846.6:c.133T>G	ENSP00000437757.2:p.Phe45Val
ENST00000558739.1:c.133T>G	ENSP00000453684.1:p.Phe45Val
ENST00000558894.5:c.133T>G	ENSP00000458060.1:p.Phe45Val
ENST00000559460.5:c.133T>G	ENSP00000453082.1:p.Phe45Val
ENST00000559937.1:n.298T>G
ENST00000560175.5:c.133T>G	ENSP00000455095.1:p.Phe45Val
NM_001145102.1:c.133T>G	NP_001138574.1:p.Phe45Val
NM_001145103.1:c.316T>G	NP_001138575.1:p.Phe106Val
NM_005902.3:c.448T>G	NP_005893.1:p.Phe150Val
XM_011521559.1:c.400+212T>G	XP_011519861.1:n.400+212T>G
XM_011521560.1:c.301T>G	XP_011519862.1:p.Phe101Val
XM_011521559.3:c.400+212T>G	XP_011519861.1:n.400+212T>G
NM_005902.4:c.448T>G MANE Select	NP_005893.1:p.Phe150Val
NM_001145102.2:c.133T>G	NP_001138574.1:p.Phe45Val
NM_001145103.2:c.316T>G	NP_001138575.1:p.Phe106Val