Canonical Allele Identifier: CA293632

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 139219
• ClinVar RCV Id: RCV000128173 ; RCV000586605 ; RCV000579485 ; RCV001080462 ; RCV001127535 ; RCV001127536 ; RCV001507129 ; RCV002492489 ; RCV002453458
• dbSNP Id: rs186332162
• ExAC: 18:48593379 T / C
• gnomAD v2: 18-48593379-T-C
• gnomAD v3: 18-51067009-T-C
• gnomAD v4: 18-51067009-T-C
• MyVariant Identifiers: chr18:g.48593379T>C (hg19) ; chr18:g.51067009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067009T>C , CM000680.2:g.51067009T>C	GRCh38
NC_000018.9:g.48593379T>C , CM000680.1:g.48593379T>C	GRCh37
NC_000018.8:g.46847377T>C	NCBI36
NG_013013.2:g.103970T>C , LRG_318:g.103970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-10T>C	ENSP00000465878.2:n.1140-10T>C
ENST00000589076.6:c.1140-10T>C	ENSP00000466934.2:n.1140-10T>C
ENST00000589941.2:c.1140-10T>C	ENSP00000465874.2:n.1140-10T>C
ENST00000590061.2:c.1140-10T>C	ENSP00000464772.2:n.1140-10T>C
ENST00000593223.2:c.1140-10T>C	ENSP00000466118.2:n.1140-10T>C
ENST00000611848.2:c.1140-10T>C	ENSP00000478613.2:n.1140-10T>C
ENST00000684953.1:n.2512-10T>C
ENST00000685090.1:n.1591-10T>C
ENST00000685232.1:n.1248-10T>C
ENST00000688574.1:n.1248-10T>C
ENST00000691124.1:n.2622-10T>C
ENST00000342988.8:c.1140-10T>C MANE Select	ENSP00000341551.3:n.1140-10T>C
ENST00000342988.7:c.1140-10T>C	ENSP00000341551.3:n.1140-10T>C
ENST00000398417.6:c.1140-10T>C	ENSP00000381452.1:n.1140-10T>C
ENST00000588745.5:c.852-10T>C	ENSP00000464901.1:n.852-10T>C
ENST00000590499.1:n.188T>C
ENST00000591126.5:n.3141-10T>C
ENST00000592186.5:c.955+7093T>C	ENSP00000468611.1:n.955+7093T>C
ENST00000611848.1:c.340-10T>C
NM_005359.5:c.1140-10T>C , LRG_318t1:c.1140-10T>C	NP_005350.1:n.1140-10T>C
NM_005359.6:c.1140-10T>C MANE Select	NP_005350.1:n.1140-10T>C