Canonical Allele Identifier: CA300093114

Gene: SMAD4

Linked Data

• dbSNP Id: rs954007184
• gnomAD v2: 18-48610759-G-A
• gnomAD v3: 18-51084389-G-A
• gnomAD v4: 18-51084389-G-A
• MyVariant Identifiers: chr18:g.48610759G>A (hg19) ; chr18:g.51084389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084389G>A , CM000680.2:g.51084389G>A	GRCh38
NC_000018.9:g.48610759G>A , CM000680.1:g.48610759G>A	GRCh37
NC_000018.8:g.46864757G>A	NCBI36
NG_013013.2:g.121350G>A , LRG_318:g.121350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*5922G>A	ENSP00000465878.2:n.*5922G>A
ENST00000589076.6:c.*5922G>A	ENSP00000466934.2:n.*5922G>A
ENST00000589941.2:c.*5922G>A	ENSP00000465874.2:n.*5922G>A
ENST00000590061.2:c.*5922G>A	ENSP00000464772.2:n.*5922G>A
ENST00000688574.1:n.7689G>A
ENST00000342988.8:c.*5922G>A MANE Select	ENSP00000341551.3:n.*5922G>A
ENST00000342988.7:c.*5922G>A	ENSP00000341551.3:n.*5922G>A
ENST00000398417.6:c.*5922G>A	ENSP00000381452.1:n.*5922G>A
NM_005359.5:c.*5922G>A , LRG_318t1:c.*5922G>A	NP_005350.1:n.*5922G>A
NM_005359.6:c.*5922G>A MANE Select	NP_005350.1:n.*5922G>A