Canonical Allele Identifier: CA8965852

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 327111
• ClinVar RCV Id: RCV000263575 ; RCV000358363 ; RCV000635437 ; RCV000571451 ; RCV002314055 ; RCV001328519 ; RCV001711942
• dbSNP Id: rs757971589
• ExAC: 18:48581366 G / A
• gnomAD v2: 18-48581366-G-A
• gnomAD v3: 18-51054996-G-A
• gnomAD v4: 18-51054996-G-A
• MyVariant Identifiers: chr18:g.48581366G>A (hg19) ; chr18:g.51054996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054996G>A , CM000680.2:g.51054996G>A	GRCh38
NC_000018.9:g.48581366G>A , CM000680.1:g.48581366G>A	GRCh37
NC_000018.8:g.46835364G>A	NCBI36
NG_013013.2:g.91957G>A , LRG_318:g.91957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.667+3G>A	ENSP00000465878.2:n.667+3G>A
ENST00000589076.6:c.667+3G>A	ENSP00000466934.2:n.667+3G>A
ENST00000589941.2:c.667+3G>A	ENSP00000465874.2:n.667+3G>A
ENST00000590061.2:c.667+3G>A	ENSP00000464772.2:n.667+3G>A
ENST00000593223.2:c.667+3G>A	ENSP00000466118.2:n.667+3G>A
ENST00000611848.2:c.667+3G>A	ENSP00000478613.2:n.667+3G>A
ENST00000684953.1:n.2039+3G>A
ENST00000688307.1:n.155+3G>A
ENST00000342988.8:c.667+3G>A MANE Select	ENSP00000341551.3:n.667+3G>A
ENST00000342988.7:c.667+3G>A	ENSP00000341551.3:n.667+3G>A
ENST00000398417.6:c.667+3G>A	ENSP00000381452.1:n.667+3G>A
ENST00000588745.5:c.667+3G>A	ENSP00000464901.1:n.667+3G>A
ENST00000590722.2:c.*843+3G>A	ENSP00000465737.1:n.*843+3G>A
ENST00000591126.5:n.2668+3G>A
ENST00000592186.5:c.667+3G>A	ENSP00000468611.1:n.667+3G>A
ENST00000592911.5:n.445+3G>A
NM_005359.5:c.667+3G>A , LRG_318t1:c.667+3G>A	NP_005350.1:n.667+3G>A
NM_005359.6:c.667+3G>A MANE Select	NP_005350.1:n.667+3G>A