Canonical Allele Identifier: CA2641839561

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078680-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078680C>T , CM000680.2:g.51078680C>T	GRCh38
NC_000018.9:g.48605050C>T , CM000680.1:g.48605050C>T	GRCh37
NC_000018.8:g.46859048C>T	NCBI36
NG_013013.2:g.115641C>T , LRG_318:g.115641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*213C>T	ENSP00000465878.2:n.*213C>T
ENST00000589076.6:c.*213C>T	ENSP00000466934.2:n.*213C>T
ENST00000589941.2:c.*213C>T	ENSP00000465874.2:n.*213C>T
ENST00000590061.2:c.*213C>T	ENSP00000464772.2:n.*213C>T
ENST00000593223.2:c.*1869C>T	ENSP00000466118.2:n.*1869C>T
ENST00000611848.2:c.*524C>T	ENSP00000478613.2:n.*524C>T
ENST00000684953.1:n.3887C>T
ENST00000685090.1:n.3802C>T
ENST00000685232.1:n.2093C>T
ENST00000688574.1:n.1980C>T
ENST00000691124.1:n.4833C>T
ENST00000342988.8:c.*213C>T MANE Select	ENSP00000341551.3:n.*213C>T
ENST00000342988.7:c.*213C>T	ENSP00000341551.3:n.*213C>T
ENST00000398417.6:c.*213C>T	ENSP00000381452.1:n.*213C>T
ENST00000586253.1:n.594C>T
ENST00000591126.5:n.3873C>T
ENST00000611848.1:c.1185C>T
NM_005359.5:c.*213C>T , LRG_318t1:c.*213C>T	NP_005350.1:n.*213C>T
NM_005359.6:c.*213C>T MANE Select	NP_005350.1:n.*213C>T