Canonical Allele Identifier: CA392953913

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1395868
• ClinVar RCV Id: RCV001887283
• dbSNP Id: rs1057518977
• COSMIC: COSM4834589 ; COSM4834590
• MyVariant Identifiers: chr15:g.67457307G>A (hg19) ; chr15:g.67164969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164969G>A , CM000677.2:g.67164969G>A	GRCh38
NC_000015.9:g.67457307G>A , CM000677.1:g.67457307G>A	GRCh37
NC_000015.8:g.65244361G>A	NCBI36
NG_011990.1:g.104113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-35G>A	ENSP00000453684.2:n.-35G>A
ENST00000559460.6:c.-35G>A	ENSP00000453082.2:n.-35G>A
ENST00000560424.2:c.281G>A	ENSP00000455540.2:p.Trp94Ter
ENST00000327367.9:c.281G>A MANE Select	ENSP00000332973.4:p.Trp94Ter
ENST00000679624.1:c.-35G>A	ENSP00000505445.1:n.-35G>A
ENST00000681239.1:c.-35G>A	ENSP00000505641.1:n.-35G>A
ENST00000327367.8:c.281G>A	ENSP00000332973.4:p.Trp94Ter
ENST00000439724.7:c.149G>A	ENSP00000401133.3:p.Trp50Ter
ENST00000540846.6:c.-35G>A	ENSP00000437757.2:n.-35G>A
ENST00000558739.1:c.-35G>A	ENSP00000453684.1:n.-35G>A
ENST00000558894.5:c.-35G>A	ENSP00000458060.1:n.-35G>A
ENST00000559092.1:c.226G>A	ENSP00000453788.1:p.Gly76Ser
ENST00000559460.5:c.-35G>A	ENSP00000453082.1:n.-35G>A
ENST00000559937.1:n.131G>A
ENST00000560175.5:c.-35G>A	ENSP00000455095.1:n.-35G>A
NM_001145102.1:c.-35G>A	NP_001138574.1:n.-35G>A
NM_001145103.1:c.149G>A	NP_001138575.1:p.Trp50Ter
NM_005902.3:c.281G>A	NP_005893.1:p.Trp94Ter
XM_011521559.1:c.281G>A	XP_011519861.1:p.Trp94Ter
XM_011521560.1:c.134G>A	XP_011519862.1:p.Trp45Ter
XM_011521559.3:c.281G>A	XP_011519861.1:p.Trp94Ter
NM_005902.4:c.281G>A MANE Select	NP_005893.1:p.Trp94Ter
NM_001145102.2:c.-35G>A	NP_001138574.1:n.-35G>A
NM_001145103.2:c.149G>A	NP_001138575.1:p.Trp50Ter