Canonical Allele Identifier: CA2580089877

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1798636
• ClinVar RCV Id: RCV002435607
• dbSNP Id: rs1959910723

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066183dup , CM000677.2:g.67066183dup	GRCh38
NC_000015.9:g.67358521dup , CM000677.1:g.67358521dup	GRCh37
NC_000015.8:g.65145575dup	NCBI36
NG_011990.1:g.5327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2239dup	ENSP00000453082.2:n.-110+2239dup
ENST00000560424.2:c.29dup	ENSP00000455540.2:p.Ile11AspfsTer?
ENST00000327367.9:c.29dup MANE Select	ENSP00000332973.4:p.Ile11AspfsTer?
ENST00000327367.8:c.29dup	ENSP00000332973.4:p.Ile11AspfsTer?
ENST00000559460.5:c.-110+2239dup	ENSP00000453082.1:n.-110+2239dup
NM_005902.3:c.29dup	NP_005893.1:p.Ile11AspfsTer?
XM_011521559.1:c.29dup	XP_011519861.1:p.Ile11AspfsTer?
XM_011521559.3:c.29dup	XP_011519861.1:p.Ile11AspfsTer?
NM_005902.4:c.29dup MANE Select	NP_005893.1:p.Ile11AspfsTer?