Canonical Allele Identifier: CA402457970

Gene: SMAD4

Linked Data

• dbSNP Id: rs1316987372
• gnomAD v3: 18-51047231-C-T
• gnomAD v4: 18-51047231-C-T
• MyVariant Identifiers: chr18:g.48573601C>T (hg19) ; chr18:g.51047231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047231C>T , CM000680.2:g.51047231C>T	GRCh38
NC_000018.9:g.48573601C>T , CM000680.1:g.48573601C>T	GRCh37
NC_000018.8:g.46827599C>T	NCBI36
NG_013013.2:g.84192C>T , LRG_318:g.84192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.185C>T	ENSP00000465878.2:p.Thr62Ile
ENST00000589076.6:c.185C>T	ENSP00000466934.2:p.Thr62Ile
ENST00000589941.2:c.185C>T	ENSP00000465874.2:p.Thr62Ile
ENST00000590061.2:c.185C>T	ENSP00000464772.2:p.Thr62Ile
ENST00000593223.2:c.185C>T	ENSP00000466118.2:p.Thr62Ile
ENST00000611848.2:c.185C>T	ENSP00000478613.2:p.Thr62Ile
ENST00000342988.8:c.185C>T MANE Select	ENSP00000341551.3:p.Thr62Ile
ENST00000342988.7:c.185C>T	ENSP00000341551.3:p.Thr62Ile
ENST00000398417.6:c.185C>T	ENSP00000381452.1:p.Thr62Ile
ENST00000588745.5:c.185C>T	ENSP00000464901.1:p.Thr62Ile
ENST00000588860.5:c.185C>T	ENSP00000465878.1:p.Thr62Ile
ENST00000589076.5:c.185C>T	ENSP00000466934.1:p.Thr62Ile
ENST00000589706.1:n.53C>T
ENST00000589941.1:c.185C>T	ENSP00000465874.1:p.Thr62Ile
ENST00000590061.1:c.185C>T	ENSP00000464772.1:p.Thr62Ile
ENST00000590722.2:c.*208C>T	ENSP00000465737.1:n.*208C>T
ENST00000591914.5:c.185C>T	ENSP00000466941.1:p.Thr62Ile
ENST00000592186.5:c.185C>T	ENSP00000468611.1:p.Thr62Ile
ENST00000592911.5:n.28-1455C>T
NM_005359.5:c.185C>T , LRG_318t1:c.185C>T	NP_005350.1:p.Thr62Ile
NM_005359.6:c.185C>T MANE Select	NP_005350.1:p.Thr62Ile