Canonical Allele Identifier: CA020145

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 139213
• ClinVar RCV Id: RCV000128165 ; RCV000251402 ; RCV000362675 ; RCV000755393
• dbSNP Id: rs117185005
• ExAC: 15:67473790 C / T
• gnomAD v2: 15-67473790-C-T
• gnomAD v3: 15-67181452-C-T
• gnomAD v4: 15-67181452-C-T
• MyVariant Identifiers: chr15:g.67473790C>T (hg19) ; chr15:g.67181452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181452C>T , CM000677.2:g.67181452C>T	GRCh38
NC_000015.9:g.67473790C>T , CM000677.1:g.67473790C>T	GRCh37
NC_000015.8:g.65260844C>T	NCBI36
NG_011990.1:g.120596C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.285C>T	ENSP00000454165.2:p.Ile95=
ENST00000558739.2:c.555C>T	ENSP00000453684.2:p.Ile185=
ENST00000558827.2:c.285C>T	ENSP00000452767.2:p.Ile95=
ENST00000559460.6:c.555C>T	ENSP00000453082.2:p.Ile185=
ENST00000560424.2:c.870C>T	ENSP00000455540.2:p.Ile290=
ENST00000327367.9:c.870C>T MANE Select	ENSP00000332973.4:p.Ile290=
ENST00000679624.1:c.555C>T	ENSP00000505445.1:p.Ile185=
ENST00000680689.1:n.573C>T
ENST00000681239.1:c.555C>T	ENSP00000505641.1:p.Ile185=
ENST00000327367.8:c.870C>T	ENSP00000332973.4:p.Ile290=
ENST00000439724.7:c.738C>T	ENSP00000401133.3:p.Ile246=
ENST00000537194.6:c.285C>T	ENSP00000445348.2:p.Ile95=
ENST00000540846.6:c.555C>T	ENSP00000437757.2:p.Ile185=
ENST00000558827.1:c.285C>T	ENSP00000452767.1:p.Ile95=
ENST00000558894.5:c.555C>T	ENSP00000458060.1:p.Ile185=
ENST00000560402.1:n.282+6868C>T
NM_001145102.1:c.555C>T	NP_001138574.1:p.Ile185=
NM_001145103.1:c.738C>T	NP_001138575.1:p.Ile246=
NM_001145104.1:c.285C>T	NP_001138576.1:p.Ile95=
NM_005902.3:c.870C>T	NP_005893.1:p.Ile290=
XM_011521559.1:c.738C>T	XP_011519861.1:p.Ile246=
XM_011521560.1:c.723C>T	XP_011519862.1:p.Ile241=
XM_011521559.3:c.738C>T	XP_011519861.1:p.Ile246=
NM_005902.4:c.870C>T MANE Select	NP_005893.1:p.Ile290=
NM_001145102.2:c.555C>T	NP_001138574.1:p.Ile185=
NM_001145103.2:c.738C>T	NP_001138575.1:p.Ile246=
NM_001145104.2:c.285C>T	NP_001138576.1:p.Ile95=