Canonical Allele Identifier: CA503873992

Gene: SMAD4

Linked Data

• dbSNP Id: rs281875320
• gnomAD v4: 18-51078308-A-T
• MyVariant Identifiers: chr18:g.48604678A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078308A>T , CM000680.2:g.51078308A>T	GRCh38
NC_000018.9:g.48604678A>T , CM000680.1:g.48604678A>T	GRCh37
NC_000018.8:g.46858676A>T	NCBI36
NG_013013.2:g.115269A>T , LRG_318:g.115269A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1500A>T	ENSP00000465878.2:p.Ile500=
ENST00000589076.6:c.1500A>T	ENSP00000466934.2:p.Ile500=
ENST00000589941.2:c.1500A>T	ENSP00000465874.2:p.Ile500=
ENST00000590061.2:c.1500A>T	ENSP00000464772.2:p.Ile500=
ENST00000593223.2:c.*1497A>T	ENSP00000466118.2:n.*1497A>T
ENST00000611848.2:c.*152A>T	ENSP00000478613.2:n.*152A>T
ENST00000684953.1:n.3515A>T
ENST00000685090.1:n.3430A>T
ENST00000685232.1:n.1721A>T
ENST00000688574.1:n.1608A>T
ENST00000691124.1:n.4461A>T
ENST00000342988.8:c.1500A>T MANE Select	ENSP00000341551.3:p.Ile500=
ENST00000342988.7:c.1500A>T	ENSP00000341551.3:p.Ile500=
ENST00000398417.6:c.1500A>T	ENSP00000381452.1:p.Ile500=
ENST00000586253.1:n.222A>T
ENST00000588745.5:c.1212A>T	ENSP00000464901.1:p.Ile404=
ENST00000591126.5:n.3501A>T
ENST00000592186.5:c.1147A>T	ENSP00000468611.1:n.1147A>T
ENST00000611848.1:c.813A>T
NM_005359.5:c.1500A>T , LRG_318t1:c.1500A>T	NP_005350.1:p.Ile500=
NM_005359.6:c.1500A>T MANE Select	NP_005350.1:p.Ile500=