Canonical Allele Identifier: CA2629118005

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67166230-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67166230G>C , CM000677.2:g.67166230G>C	GRCh38
NC_000015.9:g.67458568G>C , CM000677.1:g.67458568G>C	GRCh37
NC_000015.8:g.65245622G>C	NCBI36
NG_011990.1:g.105374G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.218-549G>C	ENSP00000453684.2:n.218-549G>C
ENST00000559460.6:c.218-549G>C	ENSP00000453082.2:n.218-549G>C
ENST00000560424.2:c.533-549G>C	ENSP00000455540.2:n.533-549G>C
ENST00000327367.9:c.533-549G>C MANE Select	ENSP00000332973.4:n.533-549G>C
ENST00000679624.1:c.218-549G>C	ENSP00000505445.1:n.218-549G>C
ENST00000681239.1:c.218-549G>C	ENSP00000505641.1:n.218-549G>C
ENST00000327367.8:c.533-549G>C	ENSP00000332973.4:n.533-549G>C
ENST00000439724.7:c.401-549G>C	ENSP00000401133.3:n.401-549G>C
ENST00000537194.6:c.-54+37G>C	ENSP00000445348.2:n.-54+37G>C
ENST00000540846.6:c.218-549G>C	ENSP00000437757.2:n.218-549G>C
ENST00000558894.5:c.218-549G>C	ENSP00000458060.1:n.218-549G>C
ENST00000559460.5:c.218-549G>C	ENSP00000453082.1:n.218-549G>C
ENST00000559937.1:n.383-549G>C
ENST00000560175.5:c.218-549G>C	ENSP00000455095.1:n.218-549G>C
NM_001145102.1:c.218-549G>C	NP_001138574.1:n.218-549G>C
NM_001145103.1:c.401-549G>C	NP_001138575.1:n.401-549G>C
NM_001145104.1:c.-54+37G>C	NP_001138576.1:n.-54+37G>C
NM_005902.3:c.533-549G>C	NP_005893.1:n.533-549G>C
XM_011521559.1:c.401-549G>C	XP_011519861.1:n.401-549G>C
XM_011521560.1:c.386-549G>C	XP_011519862.1:n.386-549G>C
XM_011521559.3:c.401-549G>C	XP_011519861.1:n.401-549G>C
NM_005902.4:c.533-549G>C MANE Select	NP_005893.1:n.533-549G>C
NM_001145102.2:c.218-549G>C	NP_001138574.1:n.218-549G>C
NM_001145103.2:c.401-549G>C	NP_001138575.1:n.401-549G>C
NM_001145104.2:c.-54+37G>C	NP_001138576.1:n.-54+37G>C