Canonical Allele Identifier: CA320562
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 213795
ClinVar RCV Id: RCV000533473
dbSNP Id: rs863223761
MyVariant Identifiers: chr15:g.67473793T>C (hg19) chr15:g.67181455T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67181455T>C , CM000677.2:g.67181455T>C GRCh38
NC_000015.9:g.67473793T>C , CM000677.1:g.67473793T>C GRCh37
NC_000015.8:g.65260847T>C NCBI36
NG_011990.1:g.120599T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000558428.6:c.286+2T>C ENSP00000454165.2:n.286+2T>C
ENST00000558739.2:c.556+2T>C ENSP00000453684.2:n.556+2T>C
ENST00000558827.2:c.286+2T>C ENSP00000452767.2:n.286+2T>C
ENST00000559460.6:c.556+2T>C ENSP00000453082.2:n.556+2T>C
ENST00000560424.2:c.871+2T>C ENSP00000455540.2:n.871+2T>C
ENST00000327367.9:c.871+2T>C MANE Select ENSP00000332973.4:n.871+2T>C
ENST00000679624.1:c.556+2T>C ENSP00000505445.1:n.556+2T>C
ENST00000680689.1:n.574+2T>C
ENST00000681239.1:c.556+2T>C ENSP00000505641.1:n.556+2T>C
ENST00000327367.8:c.871+2T>C ENSP00000332973.4:n.871+2T>C
ENST00000439724.7:c.739+2T>C ENSP00000401133.3:n.739+2T>C
ENST00000537194.6:c.286+2T>C ENSP00000445348.2:n.286+2T>C
ENST00000540846.6:c.556+2T>C ENSP00000437757.2:n.556+2T>C
ENST00000558827.1:c.286+2T>C ENSP00000452767.1:n.286+2T>C
ENST00000558894.5:c.556+2T>C ENSP00000458060.1:n.556+2T>C
ENST00000560402.1:n.282+6871T>C
NM_001145102.1:c.556+2T>C NP_001138574.1:n.556+2T>C
NM_001145103.1:c.739+2T>C NP_001138575.1:n.739+2T>C
NM_001145104.1:c.286+2T>C NP_001138576.1:n.286+2T>C
NM_005902.3:c.871+2T>C NP_005893.1:n.871+2T>C
XM_011521559.1:c.739+2T>C XP_011519861.1:n.739+2T>C
XM_011521560.1:c.724+2T>C XP_011519862.1:n.724+2T>C
XM_011521559.3:c.739+2T>C XP_011519861.1:n.739+2T>C
NM_005902.4:c.871+2T>C MANE Select NP_005893.1:n.871+2T>C
NM_001145102.2:c.556+2T>C NP_001138574.1:n.556+2T>C
NM_001145103.2:c.739+2T>C NP_001138575.1:n.739+2T>C
NM_001145104.2:c.286+2T>C NP_001138576.1:n.286+2T>C
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