Canonical Allele Identifier: CA503993796

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144426691
• COSMIC: COSM6475983
• MyVariant Identifiers: chr18:g.48584505C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058135C>T , CM000680.2:g.51058135C>T	GRCh38
NC_000018.9:g.48584505C>T , CM000680.1:g.48584505C>T	GRCh37
NC_000018.8:g.46838503C>T	NCBI36
NG_013013.2:g.95096C>T , LRG_318:g.95096C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.678C>T	ENSP00000465878.2:p.Ala226=
ENST00000589076.6:c.678C>T	ENSP00000466934.2:p.Ala226=
ENST00000589941.2:c.678C>T	ENSP00000465874.2:p.Ala226=
ENST00000590061.2:c.678C>T	ENSP00000464772.2:p.Ala226=
ENST00000593223.2:c.678C>T	ENSP00000466118.2:p.Ala226=
ENST00000611848.2:c.678C>T	ENSP00000478613.2:p.Ala226=
ENST00000684953.1:n.2050C>T
ENST00000685232.1:n.786C>T
ENST00000688307.1:n.156-1731C>T
ENST00000688574.1:n.786C>T
ENST00000688903.1:n.892C>T
ENST00000690892.1:n.786C>T
ENST00000342988.8:c.678C>T MANE Select	ENSP00000341551.3:p.Ala226=
ENST00000342988.7:c.678C>T	ENSP00000341551.3:p.Ala226=
ENST00000398417.6:c.678C>T	ENSP00000381452.1:p.Ala226=
ENST00000588745.5:c.667+3142C>T	ENSP00000464901.1:n.667+3142C>T
ENST00000590722.2:c.*854C>T	ENSP00000465737.1:n.*854C>T
ENST00000591126.5:n.2679C>T
ENST00000592186.5:c.678C>T	ENSP00000468611.1:p.Ala226=
ENST00000592911.5:n.456C>T
NM_005359.5:c.678C>T , LRG_318t1:c.678C>T	NP_005350.1:p.Ala226=
NM_005359.6:c.678C>T MANE Select	NP_005350.1:p.Ala226=