Canonical Allele Identifier: CA300089053

Gene: SMAD4

Linked Data

• dbSNP Id: rs1046900144
• gnomAD v2: 18-48604927-T-C
• gnomAD v3: 18-51078557-T-C
• gnomAD v4: 18-51078557-T-C
• MyVariant Identifiers: chr18:g.48604927T>C (hg19) ; chr18:g.51078557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078557T>C , CM000680.2:g.51078557T>C	GRCh38
NC_000018.9:g.48604927T>C , CM000680.1:g.48604927T>C	GRCh37
NC_000018.8:g.46858925T>C	NCBI36
NG_013013.2:g.115518T>C , LRG_318:g.115518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*90T>C	ENSP00000465878.2:n.*90T>C
ENST00000589076.6:c.*90T>C	ENSP00000466934.2:n.*90T>C
ENST00000589941.2:c.*90T>C	ENSP00000465874.2:n.*90T>C
ENST00000590061.2:c.*90T>C	ENSP00000464772.2:n.*90T>C
ENST00000593223.2:c.*1746T>C	ENSP00000466118.2:n.*1746T>C
ENST00000611848.2:c.*401T>C	ENSP00000478613.2:n.*401T>C
ENST00000684953.1:n.3764T>C
ENST00000685090.1:n.3679T>C
ENST00000685232.1:n.1970T>C
ENST00000688574.1:n.1857T>C
ENST00000691124.1:n.4710T>C
ENST00000342988.8:c.*90T>C MANE Select	ENSP00000341551.3:n.*90T>C
ENST00000342988.7:c.*90T>C	ENSP00000341551.3:n.*90T>C
ENST00000398417.6:c.*90T>C	ENSP00000381452.1:n.*90T>C
ENST00000586253.1:n.471T>C
ENST00000591126.5:n.3750T>C
ENST00000611848.1:c.1062T>C
NM_005359.5:c.*90T>C , LRG_318t1:c.*90T>C	NP_005350.1:n.*90T>C
NM_005359.6:c.*90T>C MANE Select	NP_005350.1:n.*90T>C