Canonical Allele Identifier: CA272431420
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452416
ClinVar RCV Id: RCV003172510
dbSNP Id: rs1006530719

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066159C>G , CM000677.2:g.67066159C>G GRCh38
NC_000015.9:g.67358497C>G , CM000677.1:g.67358497C>G GRCh37
NC_000015.8:g.65145551C>G NCBI36
NG_011990.1:g.5303C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2215C>G ENSP00000453082.2:n.-110+2215C>G
ENST00000560424.2:c.5C>G ENSP00000455540.2:p.Ser2Trp
ENST00000327367.9:c.5C>G MANE Select ENSP00000332973.4:p.Ser2Trp
ENST00000327367.8:c.5C>G ENSP00000332973.4:p.Ser2Trp
ENST00000559460.5:c.-110+2215C>G ENSP00000453082.1:n.-110+2215C>G
NM_005902.3:c.5C>G NP_005893.1:p.Ser2Trp
XM_011521559.1:c.5C>G XP_011519861.1:p.Ser2Trp
XM_011521559.3:c.5C>G XP_011519861.1:p.Ser2Trp
NM_005902.4:c.5C>G MANE Select NP_005893.1:p.Ser2Trp