Canonical Allele Identifier: CA393202931
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677452
ClinVar RCV Id: RCV002224194
dbSNP Id: rs2140188975

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066273A>G , CM000677.2:g.67066273A>G GRCh38
NC_000015.9:g.67358611A>G , CM000677.1:g.67358611A>G GRCh37
NC_000015.8:g.65145665A>G NCBI36
NG_011990.1:g.5417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2329A>G ENSP00000453082.2:n.-110+2329A>G
ENST00000560424.2:c.119A>G ENSP00000455540.2:p.Lys40Arg
ENST00000327367.9:c.119A>G MANE Select ENSP00000332973.4:p.Lys40Arg
ENST00000327367.8:c.119A>G ENSP00000332973.4:p.Lys40Arg
ENST00000559460.5:c.-110+2329A>G ENSP00000453082.1:n.-110+2329A>G
NM_005902.3:c.119A>G NP_005893.1:p.Lys40Arg
XM_011521559.1:c.119A>G XP_011519861.1:p.Lys40Arg
XM_011521559.3:c.119A>G XP_011519861.1:p.Lys40Arg
NM_005902.4:c.119A>G MANE Select NP_005893.1:p.Lys40Arg