Canonical Allele Identifier: CA780229669

Gene: SMAD4

Linked Data

• dbSNP Id: rs1234347960
• gnomAD v3: 18-51067318-A-C
• gnomAD v4: 18-51067318-A-C
• MyVariant Identifiers: chr18:g.48593688A>C (hg19) ; chr18:g.51067318A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067318A>C , CM000680.2:g.51067318A>C	GRCh38
NC_000018.9:g.48593688A>C , CM000680.1:g.48593688A>C	GRCh37
NC_000018.8:g.46847686A>C	NCBI36
NG_013013.2:g.104279A>C , LRG_318:g.104279A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+131A>C	ENSP00000465878.2:n.1308+131A>C
ENST00000589076.6:c.1308+131A>C	ENSP00000466934.2:n.1308+131A>C
ENST00000589941.2:c.1308+131A>C	ENSP00000465874.2:n.1308+131A>C
ENST00000590061.2:c.1308+131A>C	ENSP00000464772.2:n.1308+131A>C
ENST00000593223.2:c.1308+131A>C	ENSP00000466118.2:n.1308+131A>C
ENST00000611848.2:c.1308+131A>C	ENSP00000478613.2:n.1308+131A>C
ENST00000684953.1:n.2680+131A>C
ENST00000685090.1:n.1759+131A>C
ENST00000685232.1:n.1416+131A>C
ENST00000688574.1:n.1416+131A>C
ENST00000691124.1:n.2790+131A>C
ENST00000342988.8:c.1308+131A>C MANE Select	ENSP00000341551.3:n.1308+131A>C
ENST00000342988.7:c.1308+131A>C	ENSP00000341551.3:n.1308+131A>C
ENST00000398417.6:c.1308+131A>C	ENSP00000381452.1:n.1308+131A>C
ENST00000588745.5:c.1020+131A>C	ENSP00000464901.1:n.1020+131A>C
ENST00000590499.1:n.366+131A>C
ENST00000591126.5:n.3309+131A>C
ENST00000592186.5:c.955+7402A>C	ENSP00000468611.1:n.955+7402A>C
ENST00000593223.1:c.75+131A>C	ENSP00000466118.1:n.75+131A>C
ENST00000611848.1:c.508+131A>C
NM_005359.5:c.1308+131A>C , LRG_318t1:c.1308+131A>C	NP_005350.1:n.1308+131A>C
NM_005359.6:c.1308+131A>C MANE Select	NP_005350.1:n.1308+131A>C