Canonical Allele Identifier: CA020043

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 180526
• ClinVar RCV Id: RCV000157503 ; RCV000547199 ; RCV003998342
• dbSNP Id: rs730880216
• ExAC: 15:67479822 G / A
• gnomAD v2: 15-67479822-G-A
• gnomAD v3: 15-67187484-G-A
• gnomAD v4: 15-67187484-G-A
• COSMIC: COSM1266188 ; COSM1266189
• MyVariant Identifiers: chr15:g.67479822G>A (hg19) ; chr15:g.67187484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187484G>A , CM000677.2:g.67187484G>A	GRCh38
NC_000015.9:g.67479822G>A , CM000677.1:g.67479822G>A	GRCh37
NC_000015.8:g.65266876G>A	NCBI36
NG_011990.1:g.126628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.544G>A	ENSP00000454165.2:p.Val182Ile
ENST00000558739.2:c.814G>A	ENSP00000453684.2:p.Val272Ile
ENST00000558827.2:c.544G>A	ENSP00000452767.2:p.Val182Ile
ENST00000559460.6:c.814G>A	ENSP00000453082.2:p.Val272Ile
ENST00000560424.2:c.1240G>A	ENSP00000455540.2:p.Val414Ile
ENST00000327367.9:c.1129G>A MANE Select	ENSP00000332973.4:p.Val377Ile
ENST00000679624.1:c.814G>A	ENSP00000505445.1:p.Val272Ile
ENST00000680689.1:n.832G>A
ENST00000681239.1:c.814G>A	ENSP00000505641.1:p.Val272Ile
ENST00000327367.8:c.1129G>A	ENSP00000332973.4:p.Val377Ile
ENST00000439724.7:c.997G>A	ENSP00000401133.3:p.Val333Ile
ENST00000537194.6:c.544G>A	ENSP00000445348.2:p.Val182Ile
ENST00000540846.6:c.814G>A	ENSP00000437757.2:p.Val272Ile
ENST00000558763.1:n.823G>A
ENST00000560402.1:n.283-5389G>A
ENST00000560424.1:c.321G>A
NM_001145102.1:c.814G>A	NP_001138574.1:p.Val272Ile
NM_001145103.1:c.997G>A	NP_001138575.1:p.Val333Ile
NM_001145104.1:c.544G>A	NP_001138576.1:p.Val182Ile
NM_005902.3:c.1129G>A	NP_005893.1:p.Val377Ile
XM_011521559.1:c.997G>A	XP_011519861.1:p.Val333Ile
XM_011521560.1:c.982G>A	XP_011519862.1:p.Val328Ile
XM_011521559.3:c.997G>A	XP_011519861.1:p.Val333Ile
NM_005902.4:c.1129G>A MANE Select	NP_005893.1:p.Val377Ile
NM_001145102.2:c.814G>A	NP_001138574.1:p.Val272Ile
NM_001145103.2:c.997G>A	NP_001138575.1:p.Val333Ile
NM_001145104.2:c.544G>A	NP_001138576.1:p.Val182Ile