Canonical Allele Identifier: CA191266

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 185189
• ClinVar RCV Id: RCV000164559 ; RCV000197959 ; RCV001328514 ; RCV001770124 ; RCV002310736 ; RCV003316025
• dbSNP Id: rs564408927
• ExAC: 18:48591883 C / T
• gnomAD v2: 18-48591883-C-T
• gnomAD v3: 18-51065513-C-T
• gnomAD v4: 18-51065513-C-T
• MyVariant Identifiers: chr18:g.48591883C>T (hg19) ; chr18:g.51065513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065513C>T , CM000680.2:g.51065513C>T	GRCh38
NC_000018.9:g.48591883C>T , CM000680.1:g.48591883C>T	GRCh37
NC_000018.8:g.46845881C>T	NCBI36
NG_013013.2:g.102474C>T , LRG_318:g.102474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1046C>T	ENSP00000465878.2:p.Thr349Ile
ENST00000589076.6:c.1046C>T	ENSP00000466934.2:p.Thr349Ile
ENST00000589941.2:c.1046C>T	ENSP00000465874.2:p.Thr349Ile
ENST00000590061.2:c.1046C>T	ENSP00000464772.2:p.Thr349Ile
ENST00000593223.2:c.1046C>T	ENSP00000466118.2:p.Thr349Ile
ENST00000611848.2:c.1046C>T	ENSP00000478613.2:p.Thr349Ile
ENST00000684953.1:n.2418C>T
ENST00000685090.1:n.1497C>T
ENST00000685232.1:n.1154C>T
ENST00000688307.1:n.297C>T
ENST00000688574.1:n.1154C>T
ENST00000688903.1:n.1260C>T
ENST00000691124.1:n.2528C>T
ENST00000342988.8:c.1046C>T MANE Select	ENSP00000341551.3:p.Thr349Ile
ENST00000342988.7:c.1046C>T	ENSP00000341551.3:p.Thr349Ile
ENST00000398417.6:c.1046C>T	ENSP00000381452.1:p.Thr349Ile
ENST00000588745.5:c.758C>T	ENSP00000464901.1:p.Thr253Ile
ENST00000591126.5:n.3047C>T
ENST00000592186.5:c.955+5597C>T	ENSP00000468611.1:n.955+5597C>T
ENST00000611848.1:c.246C>T
NM_005359.5:c.1046C>T , LRG_318t1:c.1046C>T	NP_005350.1:p.Thr349Ile
NM_005359.6:c.1046C>T MANE Select	NP_005350.1:p.Thr349Ile