Canonical Allele Identifier: CA780207088

Gene: SMAD4

Linked Data

• dbSNP Id: rs1456950092
• gnomAD v3: 18-51078681-T-C
• gnomAD v4: 18-51078681-T-C
• MyVariant Identifiers: chr18:g.48605051T>C (hg19) ; chr18:g.51078681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078681T>C , CM000680.2:g.51078681T>C	GRCh38
NC_000018.9:g.48605051T>C , CM000680.1:g.48605051T>C	GRCh37
NC_000018.8:g.46859049T>C	NCBI36
NG_013013.2:g.115642T>C , LRG_318:g.115642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*214T>C	ENSP00000465878.2:n.*214T>C
ENST00000589076.6:c.*214T>C	ENSP00000466934.2:n.*214T>C
ENST00000589941.2:c.*214T>C	ENSP00000465874.2:n.*214T>C
ENST00000590061.2:c.*214T>C	ENSP00000464772.2:n.*214T>C
ENST00000593223.2:c.*1870T>C	ENSP00000466118.2:n.*1870T>C
ENST00000611848.2:c.*525T>C	ENSP00000478613.2:n.*525T>C
ENST00000684953.1:n.3888T>C
ENST00000685090.1:n.3803T>C
ENST00000685232.1:n.2094T>C
ENST00000688574.1:n.1981T>C
ENST00000691124.1:n.4834T>C
ENST00000342988.8:c.*214T>C MANE Select	ENSP00000341551.3:n.*214T>C
ENST00000342988.7:c.*214T>C	ENSP00000341551.3:n.*214T>C
ENST00000398417.6:c.*214T>C	ENSP00000381452.1:n.*214T>C
ENST00000586253.1:n.595T>C
ENST00000591126.5:n.3874T>C
ENST00000611848.1:c.1186T>C
NM_005359.5:c.*214T>C , LRG_318t1:c.*214T>C	NP_005350.1:n.*214T>C
NM_005359.6:c.*214T>C MANE Select	NP_005350.1:n.*214T>C