Canonical Allele Identifier: CA402464182

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1510281
• ClinVar RCV Id: RCV002011648
• dbSNP Id: rs773598775
• MyVariant Identifiers: chr18:g.48591839G>C (hg19) ; chr18:g.51065469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065469G>C , CM000680.2:g.51065469G>C	GRCh38
NC_000018.9:g.48591839G>C , CM000680.1:g.48591839G>C	GRCh37
NC_000018.8:g.46845837G>C	NCBI36
NG_013013.2:g.102430G>C , LRG_318:g.102430G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1002G>C	ENSP00000465878.2:p.Gln334His
ENST00000589076.6:c.1002G>C	ENSP00000466934.2:p.Gln334His
ENST00000589941.2:c.1002G>C	ENSP00000465874.2:p.Gln334His
ENST00000590061.2:c.1002G>C	ENSP00000464772.2:p.Gln334His
ENST00000593223.2:c.1002G>C	ENSP00000466118.2:p.Gln334His
ENST00000611848.2:c.1002G>C	ENSP00000478613.2:p.Gln334His
ENST00000684953.1:n.2374G>C
ENST00000685090.1:n.1453G>C
ENST00000685232.1:n.1110G>C
ENST00000688307.1:n.253G>C
ENST00000688574.1:n.1110G>C
ENST00000688903.1:n.1216G>C
ENST00000691124.1:n.2484G>C
ENST00000342988.8:c.1002G>C MANE Select	ENSP00000341551.3:p.Gln334His
ENST00000342988.7:c.1002G>C	ENSP00000341551.3:p.Gln334His
ENST00000398417.6:c.1002G>C	ENSP00000381452.1:p.Gln334His
ENST00000588745.5:c.714G>C	ENSP00000464901.1:p.Gln238His
ENST00000591126.5:n.3003G>C
ENST00000592186.5:c.955+5553G>C	ENSP00000468611.1:n.955+5553G>C
ENST00000611848.1:c.202G>C
NM_005359.5:c.1002G>C , LRG_318t1:c.1002G>C	NP_005350.1:p.Gln334His
NM_005359.6:c.1002G>C MANE Select	NP_005350.1:p.Gln334His