Canonical Allele Identifier: CA392956636

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 543904
• ClinVar RCV Id: RCV000654808 ; RCV004004124
• dbSNP Id: rs1555413991
• MyVariant Identifiers: chr15:g.67477065G>T (hg19) ; chr15:g.67184727G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184727G>T , CM000677.2:g.67184727G>T	GRCh38
NC_000015.9:g.67477065G>T , CM000677.1:g.67477065G>T	GRCh37
NC_000015.8:g.65264119G>T	NCBI36
NG_011990.1:g.123871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.287G>T	ENSP00000454165.2:p.Gly96Val
ENST00000558739.2:c.557G>T	ENSP00000453684.2:p.Gly186Val
ENST00000558827.2:c.287G>T	ENSP00000452767.2:p.Gly96Val
ENST00000559460.6:c.557G>T	ENSP00000453082.2:p.Gly186Val
ENST00000560424.2:c.872G>T	ENSP00000455540.2:p.Gly291Val
ENST00000327367.9:c.872G>T MANE Select	ENSP00000332973.4:p.Gly291Val
ENST00000679624.1:c.557G>T	ENSP00000505445.1:p.Gly186Val
ENST00000680689.1:n.575G>T
ENST00000681239.1:c.557G>T	ENSP00000505641.1:p.Gly186Val
ENST00000327367.8:c.872G>T	ENSP00000332973.4:p.Gly291Val
ENST00000439724.7:c.740G>T	ENSP00000401133.3:p.Gly247Val
ENST00000537194.6:c.287G>T	ENSP00000445348.2:p.Gly96Val
ENST00000540846.6:c.557G>T	ENSP00000437757.2:p.Gly186Val
ENST00000558827.1:c.287G>T	ENSP00000452767.1:p.Gly96Val
ENST00000558894.5:c.557-2638G>T	ENSP00000458060.1:n.557-2638G>T
ENST00000560402.1:n.283-8146G>T
NM_001145102.1:c.557G>T	NP_001138574.1:p.Gly186Val
NM_001145103.1:c.740G>T	NP_001138575.1:p.Gly247Val
NM_001145104.1:c.287G>T	NP_001138576.1:p.Gly96Val
NM_005902.3:c.872G>T	NP_005893.1:p.Gly291Val
XM_011521559.1:c.740G>T	XP_011519861.1:p.Gly247Val
XM_011521560.1:c.725G>T	XP_011519862.1:p.Gly242Val
XM_011521559.3:c.740G>T	XP_011519861.1:p.Gly247Val
NM_005902.4:c.872G>T MANE Select	NP_005893.1:p.Gly291Val
NM_001145102.2:c.557G>T	NP_001138574.1:p.Gly186Val
NM_001145103.2:c.740G>T	NP_001138575.1:p.Gly247Val
NM_001145104.2:c.287G>T	NP_001138576.1:p.Gly96Val