Canonical Allele Identifier: CA8966104

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460541
• ClinVar RCV Id: RCV001391329 ; RCV002314972
• dbSNP Id: rs760840557
• ExAC: 18:48604723 A / G
• gnomAD v2: 18-48604723-A-G
• gnomAD v4: 18-51078353-A-G
• MyVariant Identifiers: chr18:g.48604723A>G (hg19) ; chr18:g.51078353A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078353A>G , CM000680.2:g.51078353A>G	GRCh38
NC_000018.9:g.48604723A>G , CM000680.1:g.48604723A>G	GRCh37
NC_000018.8:g.46858721A>G	NCBI36
NG_013013.2:g.115314A>G , LRG_318:g.115314A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1545A>G	ENSP00000465878.2:p.Arg515=
ENST00000589076.6:c.1545A>G	ENSP00000466934.2:p.Arg515=
ENST00000589941.2:c.1545A>G	ENSP00000465874.2:p.Arg515=
ENST00000590061.2:c.1545A>G	ENSP00000464772.2:p.Arg515=
ENST00000593223.2:c.*1542A>G	ENSP00000466118.2:n.*1542A>G
ENST00000611848.2:c.*197A>G	ENSP00000478613.2:n.*197A>G
ENST00000684953.1:n.3560A>G
ENST00000685090.1:n.3475A>G
ENST00000685232.1:n.1766A>G
ENST00000688574.1:n.1653A>G
ENST00000691124.1:n.4506A>G
ENST00000342988.8:c.1545A>G MANE Select	ENSP00000341551.3:p.Arg515=
ENST00000342988.7:c.1545A>G	ENSP00000341551.3:p.Arg515=
ENST00000398417.6:c.1545A>G	ENSP00000381452.1:p.Arg515=
ENST00000586253.1:n.267A>G
ENST00000588745.5:c.1257A>G	ENSP00000464901.1:p.Arg419=
ENST00000591126.5:n.3546A>G
ENST00000592186.5:c.1192A>G	ENSP00000468611.1:n.1192A>G
ENST00000611848.1:c.858A>G
NM_005359.5:c.1545A>G , LRG_318t1:c.1545A>G	NP_005350.1:p.Arg515=
NM_005359.6:c.1545A>G MANE Select	NP_005350.1:p.Arg515=