Canonical Allele Identifier: CA10647763

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 327106
• ClinVar RCV Id: RCV000312940 ; RCV000348969 ; RCV000407675
• dbSNP Id: rs886053890
• MyVariant Identifiers: chr18:g.48556888G>C (hg19) ; chr18:g.51030518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51030518G>C , CM000680.2:g.51030518G>C	GRCh38
NC_000018.9:g.48556888G>C , CM000680.1:g.48556888G>C	GRCh37
NC_000018.8:g.46810886G>C	NCBI36
NG_013013.2:g.67479G>C , LRG_318:g.67479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-128+1853G>C	ENSP00000465878.2:n.-128+1853G>C
ENST00000589076.6:c.-128+242G>C	ENSP00000466934.2:n.-128+242G>C
ENST00000589941.2:c.-398G>C	ENSP00000465874.2:n.-398G>C
ENST00000590061.2:c.-60+242G>C	ENSP00000464772.2:n.-60+242G>C
ENST00000593223.2:c.-233G>C	ENSP00000466118.2:n.-233G>C
ENST00000342988.8:c.-233G>C MANE Select	ENSP00000341551.3:n.-233G>C
ENST00000342988.7:c.-233G>C	ENSP00000341551.3:n.-233G>C
ENST00000398417.6:c.-128+774G>C	ENSP00000381452.1:n.-128+774G>C
ENST00000588256.1:n.335-16402G>C
ENST00000588860.5:c.-128+1853G>C	ENSP00000465878.1:n.-128+1853G>C
ENST00000589076.5:c.-128+242G>C	ENSP00000466934.1:n.-128+242G>C
ENST00000590061.1:c.-60+242G>C	ENSP00000464772.1:n.-60+242G>C
ENST00000590722.2:c.158-16402G>C	ENSP00000465737.1:n.158-16402G>C
ENST00000591914.5:c.-233G>C	ENSP00000466941.1:n.-233G>C
NM_005359.5:c.-233G>C , LRG_318t1:c.-233G>C	NP_005350.1:n.-233G>C
NM_005359.6:c.-233G>C MANE Select	NP_005350.1:n.-233G>C