Canonical Allele Identifier: CA10602646

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 268091
• ClinVar RCV Id: RCV000258815 ; RCV000796536
• dbSNP Id: rs886041046
• MyVariant Identifiers: chr15:g.67457254G>T (hg19) ; chr15:g.67164916G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164916G>T , CM000677.2:g.67164916G>T	GRCh38
NC_000015.9:g.67457254G>T , CM000677.1:g.67457254G>T	GRCh37
NC_000015.8:g.65244308G>T	NCBI36
NG_011990.1:g.104060G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-88G>T	ENSP00000453684.2:n.-88G>T
ENST00000559460.6:c.-88G>T	ENSP00000453082.2:n.-88G>T
ENST00000560424.2:c.228G>T	ENSP00000455540.2:p.Gln76His
ENST00000327367.9:c.228G>T MANE Select	ENSP00000332973.4:p.Gln76His
ENST00000679624.1:c.-88G>T	ENSP00000505445.1:n.-88G>T
ENST00000681239.1:c.-88G>T	ENSP00000505641.1:n.-88G>T
ENST00000327367.8:c.228G>T	ENSP00000332973.4:p.Gln76His
ENST00000439724.7:c.96G>T	ENSP00000401133.3:p.Gln32His
ENST00000540846.6:c.-88G>T	ENSP00000437757.2:n.-88G>T
ENST00000558739.1:c.-88G>T	ENSP00000453684.1:n.-88G>T
ENST00000558894.5:c.-88G>T	ENSP00000458060.1:n.-88G>T
ENST00000559092.1:c.173G>T	ENSP00000453788.1:p.Arg58Met
ENST00000559460.5:c.-88G>T	ENSP00000453082.1:n.-88G>T
ENST00000559937.1:n.78G>T
ENST00000560175.5:c.-88G>T	ENSP00000455095.1:n.-88G>T
NM_001145102.1:c.-88G>T	NP_001138574.1:n.-88G>T
NM_001145103.1:c.96G>T	NP_001138575.1:p.Gln32His
NM_005902.3:c.228G>T	NP_005893.1:p.Gln76His
XM_011521559.1:c.228G>T	XP_011519861.1:p.Gln76His
XM_011521560.1:c.81G>T	XP_011519862.1:p.Gln27His
XM_011521559.3:c.228G>T	XP_011519861.1:p.Gln76His
NM_005902.4:c.228G>T MANE Select	NP_005893.1:p.Gln76His
NM_001145102.2:c.-88G>T	NP_001138574.1:n.-88G>T
NM_001145103.2:c.96G>T	NP_001138575.1:p.Gln32His