Canonical Allele Identifier: CA715086433

Gene: SMAD3

Linked Data

• dbSNP Id: rs1221643889
• gnomAD v3: 15-67145426-C-T
• gnomAD v4: 15-67145426-C-T
• MyVariant Identifiers: chr15:g.67437764C>T (hg19) ; chr15:g.67145426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67145426C>T , CM000677.2:g.67145426C>T	GRCh38
NC_000015.9:g.67437764C>T , CM000677.1:g.67437764C>T	GRCh37
NC_000015.8:g.65224818C>T	NCBI36
NG_011990.1:g.84570C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-110+6904C>T	ENSP00000453684.2:n.-110+6904C>T
ENST00000559460.6:c.-109-19469C>T	ENSP00000453082.2:n.-109-19469C>T
ENST00000560424.2:c.207-19469C>T	ENSP00000455540.2:n.207-19469C>T
ENST00000327367.9:c.207-19469C>T MANE Select	ENSP00000332973.4:n.207-19469C>T
ENST00000679624.1:c.-109-19469C>T	ENSP00000505445.1:n.-109-19469C>T
ENST00000681239.1:c.-110+5704C>T	ENSP00000505641.1:n.-110+5704C>T
ENST00000327367.8:c.207-19469C>T	ENSP00000332973.4:n.207-19469C>T
ENST00000439724.7:c.74+7326C>T	ENSP00000401133.3:n.74+7326C>T
ENST00000540846.6:c.-110+19442C>T	ENSP00000437757.2:n.-110+19442C>T
ENST00000558739.1:c.-110+6904C>T	ENSP00000453684.1:n.-110+6904C>T
ENST00000558894.5:c.-110+17275C>T	ENSP00000458060.1:n.-110+17275C>T
ENST00000559092.1:c.152-19469C>T	ENSP00000453788.1:n.152-19469C>T
ENST00000559460.5:c.-109-19469C>T	ENSP00000453082.1:n.-109-19469C>T
ENST00000559937.1:n.57-19469C>T
ENST00000560175.5:c.-109-19469C>T	ENSP00000455095.1:n.-109-19469C>T
NM_001145102.1:c.-110+19442C>T	NP_001138574.1:n.-110+19442C>T
NM_001145103.1:c.74+7326C>T	NP_001138575.1:n.74+7326C>T
NM_005902.3:c.207-19469C>T	NP_005893.1:n.207-19469C>T
XM_011521559.1:c.207-19469C>T	XP_011519861.1:n.207-19469C>T
XM_011521560.1:c.60-19469C>T	XP_011519862.1:n.60-19469C>T
XM_011521559.3:c.207-19469C>T	XP_011519861.1:n.207-19469C>T
NM_005902.4:c.207-19469C>T MANE Select	NP_005893.1:n.207-19469C>T
NM_001145102.2:c.-110+19442C>T	NP_001138574.1:n.-110+19442C>T
NM_001145103.2:c.74+7326C>T	NP_001138575.1:n.74+7326C>T