Canonical Allele Identifier: CA392954366

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1395904
• ClinVar RCV Id: RCV001887298
• dbSNP Id: rs1397686956
• gnomAD v2: 15-67457657-A-G
• gnomAD v4: 15-67165319-A-G
• MyVariant Identifiers: chr15:g.67457657A>G (hg19) ; chr15:g.67165319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165319A>G , CM000677.2:g.67165319A>G	GRCh38
NC_000015.9:g.67457657A>G , CM000677.1:g.67457657A>G	GRCh37
NC_000015.8:g.65244711A>G	NCBI36
NG_011990.1:g.104463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.152A>G	ENSP00000453684.2:p.Tyr51Cys
ENST00000559460.6:c.152A>G	ENSP00000453082.2:p.Tyr51Cys
ENST00000560424.2:c.467A>G	ENSP00000455540.2:p.Tyr156Cys
ENST00000327367.9:c.467A>G MANE Select	ENSP00000332973.4:p.Tyr156Cys
ENST00000679624.1:c.152A>G	ENSP00000505445.1:p.Tyr51Cys
ENST00000681239.1:c.152A>G	ENSP00000505641.1:p.Tyr51Cys
ENST00000327367.8:c.467A>G	ENSP00000332973.4:p.Tyr156Cys
ENST00000439724.7:c.335A>G	ENSP00000401133.3:p.Tyr112Cys
ENST00000540846.6:c.152A>G	ENSP00000437757.2:p.Tyr51Cys
ENST00000558739.1:c.152A>G	ENSP00000453684.1:p.Tyr51Cys
ENST00000558894.5:c.152A>G	ENSP00000458060.1:p.Tyr51Cys
ENST00000559460.5:c.152A>G	ENSP00000453082.1:p.Tyr51Cys
ENST00000559937.1:n.317A>G
ENST00000560175.5:c.152A>G	ENSP00000455095.1:p.Tyr51Cys
NM_001145102.1:c.152A>G	NP_001138574.1:p.Tyr51Cys
NM_001145103.1:c.335A>G	NP_001138575.1:p.Tyr112Cys
NM_005902.3:c.467A>G	NP_005893.1:p.Tyr156Cys
XM_011521559.1:c.400+231A>G	XP_011519861.1:n.400+231A>G
XM_011521560.1:c.320A>G	XP_011519862.1:p.Tyr107Cys
XM_011521559.3:c.400+231A>G	XP_011519861.1:n.400+231A>G
NM_005902.4:c.467A>G MANE Select	NP_005893.1:p.Tyr156Cys
NM_001145102.2:c.152A>G	NP_001138574.1:p.Tyr51Cys
NM_001145103.2:c.335A>G	NP_001138575.1:p.Tyr112Cys