Canonical Allele Identifier: CA2742038394

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.[51048644G>T;51048645C>T] , CM000680.2:g.[51048644G>T;51048645C>T]	GRCh38
NC_000018.9:g.[48575014G>T;48575015C>T] , CM000680.1:g.[48575014G>T;48575015C>T]	GRCh37
NC_000018.8:g.[46829012G>T;46829013C>T]	NCBI36
NG_013013.2:g.[85605G>T;85606C>T] , LRG_318:g.[85605G>T;85606C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.[250-42G>T;250-41C>T]	ENSP00000465878.2:n.[250-42G>T;250-41C>T]
ENST00000589076.6:c.[250-42G>T;250-41C>T]	ENSP00000466934.2:n.[250-42G>T;250-41C>T]
ENST00000589941.2:c.[250-42G>T;250-41C>T]	ENSP00000465874.2:n.[250-42G>T;250-41C>T]
ENST00000590061.2:c.[250-42G>T;250-41C>T]	ENSP00000464772.2:n.[250-42G>T;250-41C>T]
ENST00000593223.2:c.[250-42G>T;250-41C>T]	ENSP00000466118.2:n.[250-42G>T;250-41C>T]
ENST00000611848.2:c.[250-42G>T;250-41C>T]	ENSP00000478613.2:n.[250-42G>T;250-41C>T]
ENST00000342988.8:c.[250-42G>T;250-41C>T] MANE Select	ENSP00000341551.3:n.[250-42G>T;250-41C>T]
ENST00000342988.7:c.[250-42G>T;250-41C>T]	ENSP00000341551.3:n.[250-42G>T;250-41C>T]
ENST00000398417.6:c.[250-42G>T;250-41C>T]	ENSP00000381452.1:n.[250-42G>T;250-41C>T]
ENST00000588745.5:c.[250-42G>T;250-41C>T]	ENSP00000464901.1:n.[250-42G>T;250-41C>T]
ENST00000588860.5:c.[250-42G>T;250-41C>T]	ENSP00000465878.1:n.[250-42G>T;250-41C>T]
ENST00000589076.5:c.[250-42G>T;250-41C>T]	ENSP00000466934.1:n.[250-42G>T;250-41C>T]
ENST00000589706.1:n.[118-42G>T;118-41C>T]
ENST00000589941.1:c.[250-42G>T;250-41C>T]	ENSP00000465874.1:n.[250-42G>T;250-41C>T]
ENST00000590061.1:c.[250-42G>T;250-41C>T]	ENSP00000464772.1:n.[250-42G>T;250-41C>T]
ENST00000590722.2:c.[*273-42G>T;*273-41C>T]	ENSP00000465737.1:n.[*273-42G>T;*273-41C>T]
ENST00000591914.5:c.[250-42G>T;250-41C>T]	ENSP00000466941.1:n.[250-42G>T;250-41C>T]
ENST00000592186.5:c.[250-42G>T;250-41C>T]	ENSP00000468611.1:n.[250-42G>T;250-41C>T]
ENST00000592911.5:n.[28-42G>T;28-41C>T]
NM_005359.5:c.[250-42G>T;250-41C>T] , LRG_318t1:c.[250-42G>T;250-41C>T]	NP_005350.1:n.[250-42G>T;250-41C>T]
NM_005359.6:c.[250-42G>T;250-41C>T] MANE Select	NP_005350.1:n.[250-42G>T;250-41C>T]