Canonical Allele Identifier: CA392954404

Gene: SMAD3

Linked Data

• dbSNP Id: rs2140294909
• COSMIC: COSM5610585 ; COSM5610586
• MyVariant Identifiers: chr15:g.67457672C>A (hg19) ; chr15:g.67165334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165334C>A , CM000677.2:g.67165334C>A	GRCh38
NC_000015.9:g.67457672C>A , CM000677.1:g.67457672C>A	GRCh37
NC_000015.8:g.65244726C>A	NCBI36
NG_011990.1:g.104478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.167C>A	ENSP00000453684.2:p.Pro56His
ENST00000559460.6:c.167C>A	ENSP00000453082.2:p.Pro56His
ENST00000560424.2:c.482C>A	ENSP00000455540.2:p.Pro161His
ENST00000327367.9:c.482C>A MANE Select	ENSP00000332973.4:p.Pro161His
ENST00000679624.1:c.167C>A	ENSP00000505445.1:p.Pro56His
ENST00000681239.1:c.167C>A	ENSP00000505641.1:p.Pro56His
ENST00000327367.8:c.482C>A	ENSP00000332973.4:p.Pro161His
ENST00000439724.7:c.350C>A	ENSP00000401133.3:p.Pro117His
ENST00000540846.6:c.167C>A	ENSP00000437757.2:p.Pro56His
ENST00000558739.1:c.167C>A	ENSP00000453684.1:p.Pro56His
ENST00000558894.5:c.167C>A	ENSP00000458060.1:p.Pro56His
ENST00000559460.5:c.167C>A	ENSP00000453082.1:p.Pro56His
ENST00000559937.1:n.332C>A
ENST00000560175.5:c.167C>A	ENSP00000455095.1:p.Pro56His
NM_001145102.1:c.167C>A	NP_001138574.1:p.Pro56His
NM_001145103.1:c.350C>A	NP_001138575.1:p.Pro117His
NM_005902.3:c.482C>A	NP_005893.1:p.Pro161His
XM_011521559.1:c.400+246C>A	XP_011519861.1:n.400+246C>A
XM_011521560.1:c.335C>A	XP_011519862.1:p.Pro112His
XM_011521559.3:c.400+246C>A	XP_011519861.1:n.400+246C>A
NM_005902.4:c.482C>A MANE Select	NP_005893.1:p.Pro161His
NM_001145102.2:c.167C>A	NP_001138574.1:p.Pro56His
NM_001145103.2:c.350C>A	NP_001138575.1:p.Pro117His