Canonical Allele Identifier: CA10587871

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 263428
• ClinVar RCV Id: RCV000246998 ; RCV000654790 ; RCV001027804 ; RCV001193563 ; RCV001582892 ; RCV002278226
• dbSNP Id: rs886038803
• gnomAD v4: 15-67164957-G-A
• COSMIC: COSM1226721 ; COSM1226722
• MyVariant Identifiers: chr15:g.67457295G>A (hg19) ; chr15:g.67164957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164957G>A , CM000677.2:g.67164957G>A	GRCh38
NC_000015.9:g.67457295G>A , CM000677.1:g.67457295G>A	GRCh37
NC_000015.8:g.65244349G>A	NCBI36
NG_011990.1:g.104101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-47G>A	ENSP00000453684.2:n.-47G>A
ENST00000559460.6:c.-47G>A	ENSP00000453082.2:n.-47G>A
ENST00000560424.2:c.269G>A	ENSP00000455540.2:p.Arg90His
ENST00000327367.9:c.269G>A MANE Select	ENSP00000332973.4:p.Arg90His
ENST00000679624.1:c.-47G>A	ENSP00000505445.1:n.-47G>A
ENST00000681239.1:c.-47G>A	ENSP00000505641.1:n.-47G>A
ENST00000327367.8:c.269G>A	ENSP00000332973.4:p.Arg90His
ENST00000439724.7:c.137G>A	ENSP00000401133.3:p.Arg46His
ENST00000540846.6:c.-47G>A	ENSP00000437757.2:n.-47G>A
ENST00000558739.1:c.-47G>A	ENSP00000453684.1:n.-47G>A
ENST00000558894.5:c.-47G>A	ENSP00000458060.1:n.-47G>A
ENST00000559092.1:c.214G>A	ENSP00000453788.1:p.Ala72Thr
ENST00000559460.5:c.-47G>A	ENSP00000453082.1:n.-47G>A
ENST00000559937.1:n.119G>A
ENST00000560175.5:c.-47G>A	ENSP00000455095.1:n.-47G>A
NM_001145102.1:c.-47G>A	NP_001138574.1:n.-47G>A
NM_001145103.1:c.137G>A	NP_001138575.1:p.Arg46His
NM_005902.3:c.269G>A	NP_005893.1:p.Arg90His
XM_011521559.1:c.269G>A	XP_011519861.1:p.Arg90His
XM_011521560.1:c.122G>A	XP_011519862.1:p.Arg41His
XM_011521559.3:c.269G>A	XP_011519861.1:p.Arg90His
NM_005902.4:c.269G>A MANE Select	NP_005893.1:p.Arg90His
NM_001145102.2:c.-47G>A	NP_001138574.1:n.-47G>A
NM_001145103.2:c.137G>A	NP_001138575.1:p.Arg46His