Canonical Allele Identifier: CA402466005

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144478896
• MyVariant Identifiers: chr18:g.48604726G>C (hg19) ; chr18:g.51078356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078356G>C , CM000680.2:g.51078356G>C	GRCh38
NC_000018.9:g.48604726G>C , CM000680.1:g.48604726G>C	GRCh37
NC_000018.8:g.46858724G>C	NCBI36
NG_013013.2:g.115317G>C , LRG_318:g.115317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1548G>C	ENSP00000465878.2:p.Gln516His
ENST00000589076.6:c.1548G>C	ENSP00000466934.2:p.Gln516His
ENST00000589941.2:c.1548G>C	ENSP00000465874.2:p.Gln516His
ENST00000590061.2:c.1548G>C	ENSP00000464772.2:p.Gln516His
ENST00000593223.2:c.*1545G>C	ENSP00000466118.2:n.*1545G>C
ENST00000611848.2:c.*200G>C	ENSP00000478613.2:n.*200G>C
ENST00000684953.1:n.3563G>C
ENST00000685090.1:n.3478G>C
ENST00000685232.1:n.1769G>C
ENST00000688574.1:n.1656G>C
ENST00000691124.1:n.4509G>C
ENST00000342988.8:c.1548G>C MANE Select	ENSP00000341551.3:p.Gln516His
ENST00000342988.7:c.1548G>C	ENSP00000341551.3:p.Gln516His
ENST00000398417.6:c.1548G>C	ENSP00000381452.1:p.Gln516His
ENST00000586253.1:n.270G>C
ENST00000588745.5:c.1260G>C	ENSP00000464901.1:p.Gln420His
ENST00000591126.5:n.3549G>C
ENST00000592186.5:c.1195G>C	ENSP00000468611.1:n.1195G>C
ENST00000611848.1:c.861G>C
NM_005359.5:c.1548G>C , LRG_318t1:c.1548G>C	NP_005350.1:p.Gln516His
NM_005359.6:c.1548G>C MANE Select	NP_005350.1:p.Gln516His