Canonical Allele Identifier: CA780207100

Gene: SMAD4

Linked Data

• dbSNP Id: rs1277727742
• gnomAD v4: 18-51078697-A-C
• MyVariant Identifiers: chr18:g.48605067A>C (hg19) ; chr18:g.51078697A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078697A>C , CM000680.2:g.51078697A>C	GRCh38
NC_000018.9:g.48605067A>C , CM000680.1:g.48605067A>C	GRCh37
NC_000018.8:g.46859065A>C	NCBI36
NG_013013.2:g.115658A>C , LRG_318:g.115658A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*230A>C	ENSP00000465878.2:n.*230A>C
ENST00000589076.6:c.*230A>C	ENSP00000466934.2:n.*230A>C
ENST00000589941.2:c.*230A>C	ENSP00000465874.2:n.*230A>C
ENST00000590061.2:c.*230A>C	ENSP00000464772.2:n.*230A>C
ENST00000593223.2:c.*1886A>C	ENSP00000466118.2:n.*1886A>C
ENST00000611848.2:c.*541A>C	ENSP00000478613.2:n.*541A>C
ENST00000684953.1:n.3904A>C
ENST00000685090.1:n.3819A>C
ENST00000685232.1:n.2110A>C
ENST00000688574.1:n.1997A>C
ENST00000691124.1:n.4850A>C
ENST00000342988.8:c.*230A>C MANE Select	ENSP00000341551.3:n.*230A>C
ENST00000342988.7:c.*230A>C	ENSP00000341551.3:n.*230A>C
ENST00000398417.6:c.*230A>C	ENSP00000381452.1:n.*230A>C
ENST00000586253.1:n.611A>C
ENST00000591126.5:n.3890A>C
ENST00000611848.1:c.1202A>C
NM_005359.5:c.*230A>C , LRG_318t1:c.*230A>C	NP_005350.1:n.*230A>C
NM_005359.6:c.*230A>C MANE Select	NP_005350.1:n.*230A>C