Canonical Allele Identifier: CA990248863

Gene: SMAD4

Linked Data

• dbSNP Id: rs952947165
• gnomAD v3: 18-51083992-G-T
• gnomAD v4: 18-51083992-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083992G>T , CM000680.2:g.51083992G>T	GRCh38
NC_000018.9:g.48610362G>T , CM000680.1:g.48610362G>T	GRCh37
NC_000018.8:g.46864360G>T	NCBI36
NG_013013.2:g.120953G>T , LRG_318:g.120953G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5525G>T	ENSP00000465878.2:n.*5525G>T
ENST00000589076.6:c.*5525G>T	ENSP00000466934.2:n.*5525G>T
ENST00000589941.2:c.*5525G>T	ENSP00000465874.2:n.*5525G>T
ENST00000590061.2:c.*5525G>T	ENSP00000464772.2:n.*5525G>T
ENST00000688574.1:n.7292G>T
ENST00000342988.8:c.*5525G>T MANE Select	ENSP00000341551.3:n.*5525G>T
ENST00000342988.7:c.*5525G>T	ENSP00000341551.3:n.*5525G>T
ENST00000398417.6:c.*5525G>T	ENSP00000381452.1:n.*5525G>T
NM_005359.5:c.*5525G>T , LRG_318t1:c.*5525G>T	NP_005350.1:n.*5525G>T
NM_005359.6:c.*5525G>T MANE Select	NP_005350.1:n.*5525G>T