Canonical Allele Identifier: CA10642400

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 316861
• ClinVar RCV Id: RCV000266797 ; RCV000358147 ; RCV000660270 ; RCV001706486
• dbSNP Id: rs886051380
• gnomAD v2: 15-67459200-T-A
• gnomAD v3: 15-67166862-T-A
• gnomAD v4: 15-67166862-T-A
• MyVariant Identifiers: chr15:g.67459200T>A (hg19) ; chr15:g.67166862T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67166862T>A , CM000677.2:g.67166862T>A	GRCh38
NC_000015.9:g.67459200T>A , CM000677.1:g.67459200T>A	GRCh37
NC_000015.8:g.65246254T>A	NCBI36
NG_011990.1:g.106006T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.22+9T>A	ENSP00000454165.2:n.22+9T>A
ENST00000558739.2:c.292+9T>A	ENSP00000453684.2:n.292+9T>A
ENST00000558827.2:c.22+9T>A	ENSP00000452767.2:n.22+9T>A
ENST00000559460.6:c.292+9T>A	ENSP00000453082.2:n.292+9T>A
ENST00000560424.2:c.607+9T>A	ENSP00000455540.2:n.607+9T>A
ENST00000327367.9:c.607+9T>A MANE Select	ENSP00000332973.4:n.607+9T>A
ENST00000679624.1:c.292+9T>A	ENSP00000505445.1:n.292+9T>A
ENST00000681239.1:c.292+9T>A	ENSP00000505641.1:n.292+9T>A
ENST00000327367.8:c.607+9T>A	ENSP00000332973.4:n.607+9T>A
ENST00000439724.7:c.475+9T>A	ENSP00000401133.3:n.475+9T>A
ENST00000537194.6:c.22+9T>A	ENSP00000445348.2:n.22+9T>A
ENST00000540846.6:c.292+9T>A	ENSP00000437757.2:n.292+9T>A
ENST00000558428.5:c.22+9T>A	ENSP00000454165.1:n.22+9T>A
ENST00000558827.1:c.22+9T>A	ENSP00000452767.1:n.22+9T>A
ENST00000558894.5:c.292+9T>A	ENSP00000458060.1:n.292+9T>A
ENST00000559937.1:n.457+9T>A
ENST00000560175.5:c.292+9T>A	ENSP00000455095.1:n.292+9T>A
NM_001145102.1:c.292+9T>A	NP_001138574.1:n.292+9T>A
NM_001145103.1:c.475+9T>A	NP_001138575.1:n.475+9T>A
NM_001145104.1:c.22+9T>A	NP_001138576.1:n.22+9T>A
NM_005902.3:c.607+9T>A	NP_005893.1:n.607+9T>A
XM_011521559.1:c.475+9T>A	XP_011519861.1:n.475+9T>A
XM_011521560.1:c.460+9T>A	XP_011519862.1:n.460+9T>A
XM_011521559.3:c.475+9T>A	XP_011519861.1:n.475+9T>A
NM_005902.4:c.607+9T>A MANE Select	NP_005893.1:n.607+9T>A
NM_001145102.2:c.292+9T>A	NP_001138574.1:n.292+9T>A
NM_001145103.2:c.475+9T>A	NP_001138575.1:n.475+9T>A
NM_001145104.2:c.22+9T>A	NP_001138576.1:n.22+9T>A