Canonical Allele Identifier: CA2184420986

Gene: SMAD3

Linked Data

• dbSNP Id: rs1963255200
• gnomAD v4: 15-67187576-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187576A>G , CM000677.2:g.67187576A>G	GRCh38
NC_000015.9:g.67479914A>G , CM000677.1:g.67479914A>G	GRCh37
NC_000015.8:g.65266968A>G	NCBI36
NG_011990.1:g.126720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.569+67A>G	ENSP00000454165.2:n.569+67A>G
ENST00000558739.2:c.839+67A>G	ENSP00000453684.2:n.839+67A>G
ENST00000558827.2:c.569+67A>G	ENSP00000452767.2:n.569+67A>G
ENST00000559460.6:c.839+67A>G	ENSP00000453082.2:n.839+67A>G
ENST00000560424.2:c.1265+67A>G	ENSP00000455540.2:n.1265+67A>G
ENST00000327367.9:c.1154+67A>G MANE Select	ENSP00000332973.4:n.1154+67A>G
ENST00000679624.1:c.839+67A>G	ENSP00000505445.1:n.839+67A>G
ENST00000680689.1:n.857+67A>G
ENST00000681239.1:c.839+67A>G	ENSP00000505641.1:n.839+67A>G
ENST00000327367.8:c.1154+67A>G	ENSP00000332973.4:n.1154+67A>G
ENST00000439724.7:c.1022+67A>G	ENSP00000401133.3:n.1022+67A>G
ENST00000537194.6:c.569+67A>G	ENSP00000445348.2:n.569+67A>G
ENST00000540846.6:c.839+67A>G	ENSP00000437757.2:n.839+67A>G
ENST00000558763.1:n.848+67A>G
ENST00000560402.1:n.283-5297A>G
ENST00000560424.1:c.346+67A>G
NM_001145102.1:c.839+67A>G	NP_001138574.1:n.839+67A>G
NM_001145103.1:c.1022+67A>G	NP_001138575.1:n.1022+67A>G
NM_001145104.1:c.569+67A>G	NP_001138576.1:n.569+67A>G
NM_005902.3:c.1154+67A>G	NP_005893.1:n.1154+67A>G
XM_011521559.1:c.1022+67A>G	XP_011519861.1:n.1022+67A>G
XM_011521560.1:c.1007+67A>G	XP_011519862.1:n.1007+67A>G
XM_011521559.3:c.1022+67A>G	XP_011519861.1:n.1022+67A>G
NM_005902.4:c.1154+67A>G MANE Select	NP_005893.1:n.1154+67A>G
NM_001145102.2:c.839+67A>G	NP_001138574.1:n.839+67A>G
NM_001145103.2:c.1022+67A>G	NP_001138575.1:n.1022+67A>G
NM_001145104.2:c.569+67A>G	NP_001138576.1:n.569+67A>G