Canonical Allele Identifier: CA8966119

Gene: SMAD4

Linked Data

• dbSNP Id: rs771022919
• ExAC: 18:48604871 G / C
• gnomAD v2: 18-48604871-G-C
• gnomAD v4: 18-51078501-G-C
• MyVariant Identifiers: chr18:g.48604871G>C (hg19) ; chr18:g.51078501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078501G>C , CM000680.2:g.51078501G>C	GRCh38
NC_000018.9:g.48604871G>C , CM000680.1:g.48604871G>C	GRCh37
NC_000018.8:g.46858869G>C	NCBI36
NG_013013.2:g.115462G>C , LRG_318:g.115462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*34G>C	ENSP00000465878.2:n.*34G>C
ENST00000589076.6:c.*34G>C	ENSP00000466934.2:n.*34G>C
ENST00000589941.2:c.*34G>C	ENSP00000465874.2:n.*34G>C
ENST00000590061.2:c.*34G>C	ENSP00000464772.2:n.*34G>C
ENST00000593223.2:c.*1690G>C	ENSP00000466118.2:n.*1690G>C
ENST00000611848.2:c.*345G>C	ENSP00000478613.2:n.*345G>C
ENST00000684953.1:n.3708G>C
ENST00000685090.1:n.3623G>C
ENST00000685232.1:n.1914G>C
ENST00000688574.1:n.1801G>C
ENST00000691124.1:n.4654G>C
ENST00000342988.8:c.*34G>C MANE Select	ENSP00000341551.3:n.*34G>C
ENST00000342988.7:c.*34G>C	ENSP00000341551.3:n.*34G>C
ENST00000398417.6:c.*34G>C	ENSP00000381452.1:n.*34G>C
ENST00000586253.1:n.415G>C
ENST00000591126.5:n.3694G>C
ENST00000611848.1:c.1006G>C
NM_005359.5:c.*34G>C , LRG_318t1:c.*34G>C	NP_005350.1:n.*34G>C
NM_005359.6:c.*34G>C MANE Select	NP_005350.1:n.*34G>C