Canonical Allele Identifier: CA402462612

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1379416
• ClinVar RCV Id: RCV001883756
• dbSNP Id: rs943293684
• MyVariant Identifiers: chr18:g.48584503G>C (hg19) ; chr18:g.51058133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058133G>C , CM000680.2:g.51058133G>C	GRCh38
NC_000018.9:g.48584503G>C , CM000680.1:g.48584503G>C	GRCh37
NC_000018.8:g.46838501G>C	NCBI36
NG_013013.2:g.95094G>C , LRG_318:g.95094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.676G>C	ENSP00000465878.2:p.Ala226Pro
ENST00000589076.6:c.676G>C	ENSP00000466934.2:p.Ala226Pro
ENST00000589941.2:c.676G>C	ENSP00000465874.2:p.Ala226Pro
ENST00000590061.2:c.676G>C	ENSP00000464772.2:p.Ala226Pro
ENST00000593223.2:c.676G>C	ENSP00000466118.2:p.Ala226Pro
ENST00000611848.2:c.676G>C	ENSP00000478613.2:p.Ala226Pro
ENST00000684953.1:n.2048G>C
ENST00000685232.1:n.784G>C
ENST00000688307.1:n.156-1733G>C
ENST00000688574.1:n.784G>C
ENST00000688903.1:n.890G>C
ENST00000690892.1:n.784G>C
ENST00000342988.8:c.676G>C MANE Select	ENSP00000341551.3:p.Ala226Pro
ENST00000342988.7:c.676G>C	ENSP00000341551.3:p.Ala226Pro
ENST00000398417.6:c.676G>C	ENSP00000381452.1:p.Ala226Pro
ENST00000588745.5:c.667+3140G>C	ENSP00000464901.1:n.667+3140G>C
ENST00000590722.2:c.*852G>C	ENSP00000465737.1:n.*852G>C
ENST00000591126.5:n.2677G>C
ENST00000592186.5:c.676G>C	ENSP00000468611.1:p.Ala226Pro
ENST00000592911.5:n.454G>C
NM_005359.5:c.676G>C , LRG_318t1:c.676G>C	NP_005350.1:p.Ala226Pro
NM_005359.6:c.676G>C MANE Select	NP_005350.1:p.Ala226Pro