Canonical Allele Identifier: CA16607947

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 378926
• ClinVar RCV Id: RCV000429769 ; RCV000874678 ; RCV001185750 ; RCV003996003
• dbSNP Id: rs1057520412
• gnomAD v4: 18-51054773-C-T
• MyVariant Identifiers: chr18:g.48581143C>T (hg19) ; chr18:g.51054773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054773C>T , CM000680.2:g.51054773C>T	GRCh38
NC_000018.9:g.48581143C>T , CM000680.1:g.48581143C>T	GRCh37
NC_000018.8:g.46835141C>T	NCBI36
NG_013013.2:g.91734C>T , LRG_318:g.91734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.455-8C>T	ENSP00000465878.2:n.455-8C>T
ENST00000589076.6:c.455-8C>T	ENSP00000466934.2:n.455-8C>T
ENST00000589941.2:c.455-8C>T	ENSP00000465874.2:n.455-8C>T
ENST00000590061.2:c.455-8C>T	ENSP00000464772.2:n.455-8C>T
ENST00000593223.2:c.455-8C>T	ENSP00000466118.2:n.455-8C>T
ENST00000611848.2:c.455-8C>T	ENSP00000478613.2:n.455-8C>T
ENST00000684953.1:n.1819C>T
ENST00000342988.8:c.455-8C>T MANE Select	ENSP00000341551.3:n.455-8C>T
ENST00000342988.7:c.455-8C>T	ENSP00000341551.3:n.455-8C>T
ENST00000398417.6:c.455-8C>T	ENSP00000381452.1:n.455-8C>T
ENST00000585448.1:n.324-8C>T
ENST00000588745.5:c.455-8C>T	ENSP00000464901.1:n.455-8C>T
ENST00000590722.2:c.*631-8C>T	ENSP00000465737.1:n.*631-8C>T
ENST00000591126.5:n.2448C>T
ENST00000592186.5:c.455-8C>T	ENSP00000468611.1:n.455-8C>T
ENST00000592911.5:n.233-8C>T
NM_005359.5:c.455-8C>T , LRG_318t1:c.455-8C>T	NP_005350.1:n.455-8C>T
NM_005359.6:c.455-8C>T MANE Select	NP_005350.1:n.455-8C>T