Canonical Allele Identifier: CA300089078

Gene: SMAD4

Linked Data

• dbSNP Id: rs888115189
• gnomAD v3: 18-51078563-G-T
• gnomAD v4: 18-51078563-G-T
• MyVariant Identifiers: chr18:g.48604933G>T (hg19) ; chr18:g.51078563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078563G>T , CM000680.2:g.51078563G>T	GRCh38
NC_000018.9:g.48604933G>T , CM000680.1:g.48604933G>T	GRCh37
NC_000018.8:g.46858931G>T	NCBI36
NG_013013.2:g.115524G>T , LRG_318:g.115524G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*96G>T	ENSP00000465878.2:n.*96G>T
ENST00000589076.6:c.*96G>T	ENSP00000466934.2:n.*96G>T
ENST00000589941.2:c.*96G>T	ENSP00000465874.2:n.*96G>T
ENST00000590061.2:c.*96G>T	ENSP00000464772.2:n.*96G>T
ENST00000593223.2:c.*1752G>T	ENSP00000466118.2:n.*1752G>T
ENST00000611848.2:c.*407G>T	ENSP00000478613.2:n.*407G>T
ENST00000684953.1:n.3770G>T
ENST00000685090.1:n.3685G>T
ENST00000685232.1:n.1976G>T
ENST00000688574.1:n.1863G>T
ENST00000691124.1:n.4716G>T
ENST00000342988.8:c.*96G>T MANE Select	ENSP00000341551.3:n.*96G>T
ENST00000342988.7:c.*96G>T	ENSP00000341551.3:n.*96G>T
ENST00000398417.6:c.*96G>T	ENSP00000381452.1:n.*96G>T
ENST00000586253.1:n.477G>T
ENST00000591126.5:n.3756G>T
ENST00000611848.1:c.1068G>T
NM_005359.5:c.*96G>T , LRG_318t1:c.*96G>T	NP_005350.1:n.*96G>T
NM_005359.6:c.*96G>T MANE Select	NP_005350.1:n.*96G>T