Canonical Allele Identifier: CA16616073

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 405504
• ClinVar RCV Id: RCV000474688 ; RCV000775764 ; RCV000986026 ; RCV002319501 ; RCV004000672
• dbSNP Id: rs770798845
• gnomAD v4: 18-51054880-C-A
• MyVariant Identifiers: chr18:g.48581250C>A (hg19) ; chr18:g.51054880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054880C>A , CM000680.2:g.51054880C>A	GRCh38
NC_000018.9:g.48581250C>A , CM000680.1:g.48581250C>A	GRCh37
NC_000018.8:g.46835248C>A	NCBI36
NG_013013.2:g.91841C>A , LRG_318:g.91841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.554C>A	ENSP00000465878.2:p.Pro185Gln
ENST00000589076.6:c.554C>A	ENSP00000466934.2:p.Pro185Gln
ENST00000589941.2:c.554C>A	ENSP00000465874.2:p.Pro185Gln
ENST00000590061.2:c.554C>A	ENSP00000464772.2:p.Pro185Gln
ENST00000593223.2:c.554C>A	ENSP00000466118.2:p.Pro185Gln
ENST00000611848.2:c.554C>A	ENSP00000478613.2:p.Pro185Gln
ENST00000684953.1:n.1926C>A
ENST00000688307.1:n.42C>A
ENST00000342988.8:c.554C>A MANE Select	ENSP00000341551.3:p.Pro185Gln
ENST00000342988.7:c.554C>A	ENSP00000341551.3:p.Pro185Gln
ENST00000398417.6:c.554C>A	ENSP00000381452.1:p.Pro185Gln
ENST00000585448.1:n.423C>A
ENST00000588745.5:c.554C>A	ENSP00000464901.1:p.Pro185Gln
ENST00000590722.2:c.*730C>A	ENSP00000465737.1:n.*730C>A
ENST00000591126.5:n.2555C>A
ENST00000592186.5:c.554C>A	ENSP00000468611.1:p.Pro185Gln
ENST00000592911.5:n.332C>A
NM_005359.5:c.554C>A , LRG_318t1:c.554C>A	NP_005350.1:p.Pro185Gln
NM_005359.6:c.554C>A MANE Select	NP_005350.1:p.Pro185Gln