Canonical Allele Identifier: CA392958295

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 520185
• ClinVar RCV Id: RCV001771837 ; RCV002315226
• dbSNP Id: rs1555414240
• MyVariant Identifiers: chr15:g.67479814T>A (hg19) ; chr15:g.67187476T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187476T>A , CM000677.2:g.67187476T>A	GRCh38
NC_000015.9:g.67479814T>A , CM000677.1:g.67479814T>A	GRCh37
NC_000015.8:g.65266868T>A	NCBI36
NG_011990.1:g.126620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.536T>A	ENSP00000454165.2:p.Met179Lys
ENST00000558739.2:c.806T>A	ENSP00000453684.2:p.Met269Lys
ENST00000558827.2:c.536T>A	ENSP00000452767.2:p.Met179Lys
ENST00000559460.6:c.806T>A	ENSP00000453082.2:p.Met269Lys
ENST00000560424.2:c.1232T>A	ENSP00000455540.2:p.Met411Lys
ENST00000327367.9:c.1121T>A MANE Select	ENSP00000332973.4:p.Met374Lys
ENST00000679624.1:c.806T>A	ENSP00000505445.1:p.Met269Lys
ENST00000680689.1:n.824T>A
ENST00000681239.1:c.806T>A	ENSP00000505641.1:p.Met269Lys
ENST00000327367.8:c.1121T>A	ENSP00000332973.4:p.Met374Lys
ENST00000439724.7:c.989T>A	ENSP00000401133.3:p.Met330Lys
ENST00000537194.6:c.536T>A	ENSP00000445348.2:p.Met179Lys
ENST00000540846.6:c.806T>A	ENSP00000437757.2:p.Met269Lys
ENST00000558763.1:n.815T>A
ENST00000560402.1:n.283-5397T>A
ENST00000560424.1:c.313T>A
NM_001145102.1:c.806T>A	NP_001138574.1:p.Met269Lys
NM_001145103.1:c.989T>A	NP_001138575.1:p.Met330Lys
NM_001145104.1:c.536T>A	NP_001138576.1:p.Met179Lys
NM_005902.3:c.1121T>A	NP_005893.1:p.Met374Lys
XM_011521559.1:c.989T>A	XP_011519861.1:p.Met330Lys
XM_011521560.1:c.974T>A	XP_011519862.1:p.Met325Lys
XM_011521559.3:c.989T>A	XP_011519861.1:p.Met330Lys
NM_005902.4:c.1121T>A MANE Select	NP_005893.1:p.Met374Lys
NM_001145102.2:c.806T>A	NP_001138574.1:p.Met269Lys
NM_001145103.2:c.989T>A	NP_001138575.1:p.Met330Lys
NM_001145104.2:c.536T>A	NP_001138576.1:p.Met179Lys