Canonical Allele Identifier: CA503873381

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 484810
• ClinVar RCV Id: RCV000564029
• dbSNP Id: rs142292491
• gnomAD v3: 18-51047067-G-T
• gnomAD v4: 18-51047067-G-T
• MyVariant Identifiers: chr18:g.48573437G>T (hg19) ; chr18:g.51047067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047067G>T , CM000680.2:g.51047067G>T	GRCh38
NC_000018.9:g.48573437G>T , CM000680.1:g.48573437G>T	GRCh37
NC_000018.8:g.46827435G>T	NCBI36
NG_013013.2:g.84028G>T , LRG_318:g.84028G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.21G>T	ENSP00000465878.2:p.Thr7=
ENST00000589076.6:c.21G>T	ENSP00000466934.2:p.Thr7=
ENST00000589941.2:c.21G>T	ENSP00000465874.2:p.Thr7=
ENST00000590061.2:c.21G>T	ENSP00000464772.2:p.Thr7=
ENST00000593223.2:c.21G>T	ENSP00000466118.2:p.Thr7=
ENST00000611848.2:c.21G>T	ENSP00000478613.2:p.Thr7=
ENST00000342988.8:c.21G>T MANE Select	ENSP00000341551.3:p.Thr7=
ENST00000342988.7:c.21G>T	ENSP00000341551.3:p.Thr7=
ENST00000398417.6:c.21G>T	ENSP00000381452.1:p.Thr7=
ENST00000588256.1:n.482G>T
ENST00000588745.5:c.21G>T	ENSP00000464901.1:p.Thr7=
ENST00000588860.5:c.21G>T	ENSP00000465878.1:p.Thr7=
ENST00000589076.5:c.21G>T	ENSP00000466934.1:p.Thr7=
ENST00000589941.1:c.21G>T	ENSP00000465874.1:p.Thr7=
ENST00000590061.1:c.21G>T	ENSP00000464772.1:p.Thr7=
ENST00000590722.2:c.*44G>T	ENSP00000465737.1:n.*44G>T
ENST00000591914.5:c.21G>T	ENSP00000466941.1:p.Thr7=
ENST00000592186.5:c.21G>T	ENSP00000468611.1:p.Thr7=
ENST00000592911.5:n.28-1619G>T
NM_005359.5:c.21G>T , LRG_318t1:c.21G>T	NP_005350.1:p.Thr7=
NM_005359.6:c.21G>T MANE Select	NP_005350.1:p.Thr7=