Canonical Allele Identifier: CA990256152

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910530683
• gnomAD v3: 18-51078536-T-C
• gnomAD v4: 18-51078536-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078536T>C , CM000680.2:g.51078536T>C	GRCh38
NC_000018.9:g.48604906T>C , CM000680.1:g.48604906T>C	GRCh37
NC_000018.8:g.46858904T>C	NCBI36
NG_013013.2:g.115497T>C , LRG_318:g.115497T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*69T>C	ENSP00000465878.2:n.*69T>C
ENST00000589076.6:c.*69T>C	ENSP00000466934.2:n.*69T>C
ENST00000589941.2:c.*69T>C	ENSP00000465874.2:n.*69T>C
ENST00000590061.2:c.*69T>C	ENSP00000464772.2:n.*69T>C
ENST00000593223.2:c.*1725T>C	ENSP00000466118.2:n.*1725T>C
ENST00000611848.2:c.*380T>C	ENSP00000478613.2:n.*380T>C
ENST00000684953.1:n.3743T>C
ENST00000685090.1:n.3658T>C
ENST00000685232.1:n.1949T>C
ENST00000688574.1:n.1836T>C
ENST00000691124.1:n.4689T>C
ENST00000342988.8:c.*69T>C MANE Select	ENSP00000341551.3:n.*69T>C
ENST00000342988.7:c.*69T>C	ENSP00000341551.3:n.*69T>C
ENST00000398417.6:c.*69T>C	ENSP00000381452.1:n.*69T>C
ENST00000586253.1:n.450T>C
ENST00000591126.5:n.3729T>C
ENST00000611848.1:c.1041T>C
NM_005359.5:c.*69T>C , LRG_318t1:c.*69T>C	NP_005350.1:n.*69T>C
NM_005359.6:c.*69T>C MANE Select	NP_005350.1:n.*69T>C