Canonical Allele Identifier: CA392958221

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479780G>T (hg19) ; chr15:g.67187442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187442G>T , CM000677.2:g.67187442G>T	GRCh38
NC_000015.9:g.67479780G>T , CM000677.1:g.67479780G>T	GRCh37
NC_000015.8:g.65266834G>T	NCBI36
NG_011990.1:g.126586G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.502G>T	ENSP00000454165.2:p.Val168Phe
ENST00000558739.2:c.772G>T	ENSP00000453684.2:p.Val258Phe
ENST00000558827.2:c.502G>T	ENSP00000452767.2:p.Val168Phe
ENST00000559460.6:c.772G>T	ENSP00000453082.2:p.Val258Phe
ENST00000560424.2:c.1198G>T	ENSP00000455540.2:p.Val400Phe
ENST00000327367.9:c.1087G>T MANE Select	ENSP00000332973.4:p.Val363Phe
ENST00000679624.1:c.772G>T	ENSP00000505445.1:p.Val258Phe
ENST00000680689.1:n.790G>T
ENST00000681239.1:c.772G>T	ENSP00000505641.1:p.Val258Phe
ENST00000327367.8:c.1087G>T	ENSP00000332973.4:p.Val363Phe
ENST00000439724.7:c.955G>T	ENSP00000401133.3:p.Val319Phe
ENST00000537194.6:c.502G>T	ENSP00000445348.2:p.Val168Phe
ENST00000540846.6:c.772G>T	ENSP00000437757.2:p.Val258Phe
ENST00000558763.1:n.781G>T
ENST00000558894.5:c.634G>T	ENSP00000458060.1:p.Val212Phe
ENST00000560402.1:n.283-5431G>T
ENST00000560424.1:c.279G>T
NM_001145102.1:c.772G>T	NP_001138574.1:p.Val258Phe
NM_001145103.1:c.955G>T	NP_001138575.1:p.Val319Phe
NM_001145104.1:c.502G>T	NP_001138576.1:p.Val168Phe
NM_005902.3:c.1087G>T	NP_005893.1:p.Val363Phe
XM_011521559.1:c.955G>T	XP_011519861.1:p.Val319Phe
XM_011521560.1:c.940G>T	XP_011519862.1:p.Val314Phe
XM_011521559.3:c.955G>T	XP_011519861.1:p.Val319Phe
NM_005902.4:c.1087G>T MANE Select	NP_005893.1:p.Val363Phe
NM_001145102.2:c.772G>T	NP_001138574.1:p.Val258Phe
NM_001145103.2:c.955G>T	NP_001138575.1:p.Val319Phe
NM_001145104.2:c.502G>T	NP_001138576.1:p.Val168Phe