Canonical Allele Identifier: CA2573054095
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332493
ClinVar RCV Id: RCV001805539
dbSNP Id: rs2140294017

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67164997_67164999delinsGCA , CM000677.2:g.67164997_67164999delinsGCA GRCh38
NC_000015.9:g.67457335_67457337delinsGCA , CM000677.1:g.67457335_67457337delinsGCA GRCh37
NC_000015.8:g.65244389_65244391delinsGCA NCBI36
NG_011990.1:g.104141_104143delinsGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.-7_-5delinsGCA ENSP00000453684.2:n.-7_-5delinsGCA
ENST00000559460.6:c.-7_-5delinsGCA ENSP00000453082.2:n.-7_-5delinsGCA
ENST00000560424.2:c.309_311delinsGCA ENSP00000455540.2:p.Arg104Gln
ENST00000327367.9:c.309_311delinsGCA MANE Select ENSP00000332973.4:p.Arg104Gln
ENST00000679624.1:c.-7_-5delinsGCA ENSP00000505445.1:n.-7_-5delinsGCA
ENST00000681239.1:c.-7_-5delinsGCA ENSP00000505641.1:n.-7_-5delinsGCA
ENST00000327367.8:c.309_311delinsGCA ENSP00000332973.4:p.Arg104Gln
ENST00000439724.7:c.177_179delinsGCA ENSP00000401133.3:p.Arg60Gln
ENST00000540846.6:c.-7_-5delinsGCA ENSP00000437757.2:n.-7_-5delinsGCA
ENST00000558739.1:c.-7_-5delinsGCA ENSP00000453684.1:n.-7_-5delinsGCA
ENST00000558894.5:c.-7_-5delinsGCA ENSP00000458060.1:n.-7_-5delinsGCA
ENST00000559092.1:c.254_256delinsGCA ENSP00000453788.1:p.Tyr85_Gly86delinsCysArg
ENST00000559460.5:c.-7_-5delinsGCA ENSP00000453082.1:n.-7_-5delinsGCA
ENST00000559937.1:n.159_161delinsGCA
ENST00000560175.5:c.-7_-5delinsGCA ENSP00000455095.1:n.-7_-5delinsGCA
NM_001145102.1:c.-7_-5delinsGCA NP_001138574.1:n.-7_-5delinsGCA
NM_001145103.1:c.177_179delinsGCA NP_001138575.1:p.Arg60Gln
NM_005902.3:c.309_311delinsGCA NP_005893.1:p.Arg104Gln
XM_011521559.1:c.309_311delinsGCA XP_011519861.1:p.Arg104Gln
XM_011521560.1:c.162_164delinsGCA XP_011519862.1:p.Arg55Gln
XM_011521559.3:c.309_311delinsGCA XP_011519861.1:p.Arg104Gln
NM_005902.4:c.309_311delinsGCA MANE Select NP_005893.1:p.Arg104Gln
NM_001145102.2:c.-7_-5delinsGCA NP_001138574.1:n.-7_-5delinsGCA
NM_001145103.2:c.177_179delinsGCA NP_001138575.1:p.Arg60Gln