Canonical Allele Identifier: CA322583
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 213787
dbSNP Id: rs863223754

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67184845dup , CM000677.2:g.67184845dup GRCh38
NC_000015.9:g.67477183dup , CM000677.1:g.67477183dup GRCh37
NC_000015.8:g.65264237dup NCBI36
NG_011990.1:g.123989dup

Transcript Alleles

HGVS Amino-acid change
ENST00000558428.6:c.405dup ENSP00000454165.2:p.Val136ArgfsTer?
ENST00000558739.2:c.675dup ENSP00000453684.2:p.Val226ArgfsTer?
ENST00000558827.2:c.405dup ENSP00000452767.2:p.Val136ArgfsTer?
ENST00000559460.6:c.675dup ENSP00000453082.2:p.Val226ArgfsTer?
ENST00000560424.2:c.990dup ENSP00000455540.2:p.Val331ArgfsTer?
ENST00000327367.9:c.990dup MANE Select ENSP00000332973.4:p.Val331ArgfsTer?
ENST00000679624.1:c.675dup ENSP00000505445.1:p.Val226ArgfsTer?
ENST00000680689.1:n.693dup
ENST00000681239.1:c.675dup ENSP00000505641.1:p.Val226ArgfsTer?
ENST00000327367.8:c.990dup ENSP00000332973.4:p.Val331ArgfsTer?
ENST00000439724.7:c.858dup ENSP00000401133.3:p.Val287ArgfsTer?
ENST00000537194.6:c.405dup ENSP00000445348.2:p.Val136ArgfsTer?
ENST00000540846.6:c.675dup ENSP00000437757.2:p.Val226ArgfsTer?
ENST00000558894.5:c.557-2520dup ENSP00000458060.1:n.557-2520dup
ENST00000560402.1:n.283-8028dup
ENST00000560424.1:c.71dup
NM_001145102.1:c.675dup NP_001138574.1:p.Val226ArgfsTer?
NM_001145103.1:c.858dup NP_001138575.1:p.Val287ArgfsTer?
NM_001145104.1:c.405dup NP_001138576.1:p.Val136ArgfsTer?
NM_005902.3:c.990dup NP_005893.1:p.Val331ArgfsTer?
XM_011521559.1:c.858dup XP_011519861.1:p.Val287ArgfsTer?
XM_011521560.1:c.843dup XP_011519862.1:p.Val282ArgfsTer?
XM_011521559.3:c.858dup XP_011519861.1:p.Val287ArgfsTer?
NM_005902.4:c.990dup MANE Select NP_005893.1:p.Val331ArgfsTer?
NM_001145102.2:c.675dup NP_001138574.1:p.Val226ArgfsTer?
NM_001145103.2:c.858dup NP_001138575.1:p.Val287ArgfsTer?
NM_001145104.2:c.405dup NP_001138576.1:p.Val136ArgfsTer?