Canonical Allele Identifier: CA2576506239

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078531-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078531T>C , CM000680.2:g.51078531T>C	GRCh38
NC_000018.9:g.48604901T>C , CM000680.1:g.48604901T>C	GRCh37
NC_000018.8:g.46858899T>C	NCBI36
NG_013013.2:g.115492T>C , LRG_318:g.115492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*64T>C	ENSP00000465878.2:n.*64T>C
ENST00000589076.6:c.*64T>C	ENSP00000466934.2:n.*64T>C
ENST00000589941.2:c.*64T>C	ENSP00000465874.2:n.*64T>C
ENST00000590061.2:c.*64T>C	ENSP00000464772.2:n.*64T>C
ENST00000593223.2:c.*1720T>C	ENSP00000466118.2:n.*1720T>C
ENST00000611848.2:c.*375T>C	ENSP00000478613.2:n.*375T>C
ENST00000684953.1:n.3738T>C
ENST00000685090.1:n.3653T>C
ENST00000685232.1:n.1944T>C
ENST00000688574.1:n.1831T>C
ENST00000691124.1:n.4684T>C
ENST00000342988.8:c.*64T>C MANE Select	ENSP00000341551.3:n.*64T>C
ENST00000342988.7:c.*64T>C	ENSP00000341551.3:n.*64T>C
ENST00000398417.6:c.*64T>C	ENSP00000381452.1:n.*64T>C
ENST00000586253.1:n.445T>C
ENST00000591126.5:n.3724T>C
ENST00000611848.1:c.1036T>C
NM_005359.5:c.*64T>C , LRG_318t1:c.*64T>C	NP_005350.1:n.*64T>C
NM_005359.6:c.*64T>C MANE Select	NP_005350.1:n.*64T>C