Canonical Allele Identifier: CA16614483
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 405567
ClinVar RCV Id: RCV000469786
dbSNP Id: rs1060500771

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67166854G>T , CM000677.2:g.67166854G>T GRCh38
NC_000015.9:g.67459192G>T , CM000677.1:g.67459192G>T GRCh37
NC_000015.8:g.65246246G>T NCBI36
NG_011990.1:g.105998G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000558428.6:c.22+1G>T ENSP00000454165.2:n.22+1G>T
ENST00000558739.2:c.292+1G>T ENSP00000453684.2:n.292+1G>T
ENST00000558827.2:c.22+1G>T ENSP00000452767.2:n.22+1G>T
ENST00000559460.6:c.292+1G>T ENSP00000453082.2:n.292+1G>T
ENST00000560424.2:c.607+1G>T ENSP00000455540.2:n.607+1G>T
ENST00000327367.9:c.607+1G>T MANE Select ENSP00000332973.4:n.607+1G>T
ENST00000679624.1:c.292+1G>T ENSP00000505445.1:n.292+1G>T
ENST00000681239.1:c.292+1G>T ENSP00000505641.1:n.292+1G>T
ENST00000327367.8:c.607+1G>T ENSP00000332973.4:n.607+1G>T
ENST00000439724.7:c.475+1G>T ENSP00000401133.3:n.475+1G>T
ENST00000537194.6:c.22+1G>T ENSP00000445348.2:n.22+1G>T
ENST00000540846.6:c.292+1G>T ENSP00000437757.2:n.292+1G>T
ENST00000558428.5:c.22+1G>T ENSP00000454165.1:n.22+1G>T
ENST00000558827.1:c.22+1G>T ENSP00000452767.1:n.22+1G>T
ENST00000558894.5:c.292+1G>T ENSP00000458060.1:n.292+1G>T
ENST00000559937.1:n.457+1G>T
ENST00000560175.5:c.292+1G>T ENSP00000455095.1:n.292+1G>T
NM_001145102.1:c.292+1G>T NP_001138574.1:n.292+1G>T
NM_001145103.1:c.475+1G>T NP_001138575.1:n.475+1G>T
NM_001145104.1:c.22+1G>T NP_001138576.1:n.22+1G>T
NM_005902.3:c.607+1G>T NP_005893.1:n.607+1G>T
XM_011521559.1:c.475+1G>T XP_011519861.1:n.475+1G>T
XM_011521560.1:c.460+1G>T XP_011519862.1:n.460+1G>T
XM_011521559.3:c.475+1G>T XP_011519861.1:n.475+1G>T
NM_005902.4:c.607+1G>T MANE Select NP_005893.1:n.607+1G>T
NM_001145102.2:c.292+1G>T NP_001138574.1:n.292+1G>T
NM_001145103.2:c.475+1G>T NP_001138575.1:n.475+1G>T
NM_001145104.2:c.22+1G>T NP_001138576.1:n.22+1G>T