Canonical Allele Identifier: CA8965906

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460567
• ClinVar RCV Id: RCV000525377 ; RCV003999048
• dbSNP Id: rs775484792
• ExAC: 18:48584701 A / C
• gnomAD v2: 18-48584701-A-C
• gnomAD v4: 18-51058331-A-C
• MyVariant Identifiers: chr18:g.48584701A>C (hg19) ; chr18:g.51058331A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058331A>C , CM000680.2:g.51058331A>C	GRCh38
NC_000018.9:g.48584701A>C , CM000680.1:g.48584701A>C	GRCh37
NC_000018.8:g.46838699A>C	NCBI36
NG_013013.2:g.95292A>C , LRG_318:g.95292A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.788-9A>C	ENSP00000465878.2:n.788-9A>C
ENST00000589076.6:c.788-9A>C	ENSP00000466934.2:n.788-9A>C
ENST00000589941.2:c.788-9A>C	ENSP00000465874.2:n.788-9A>C
ENST00000590061.2:c.788-9A>C	ENSP00000464772.2:n.788-9A>C
ENST00000593223.2:c.788-9A>C	ENSP00000466118.2:n.788-9A>C
ENST00000611848.2:c.788-9A>C	ENSP00000478613.2:n.788-9A>C
ENST00000684953.1:n.2160-9A>C
ENST00000685232.1:n.896-9A>C
ENST00000688307.1:n.156-1535A>C
ENST00000688574.1:n.896-9A>C
ENST00000688903.1:n.1002-9A>C
ENST00000690892.1:n.896-9A>C
ENST00000342988.8:c.788-9A>C MANE Select	ENSP00000341551.3:n.788-9A>C
ENST00000342988.7:c.788-9A>C	ENSP00000341551.3:n.788-9A>C
ENST00000398417.6:c.788-9A>C	ENSP00000381452.1:n.788-9A>C
ENST00000588745.5:c.667+3338A>C	ENSP00000464901.1:n.667+3338A>C
ENST00000591126.5:n.2789-9A>C
ENST00000592186.5:c.788-9A>C	ENSP00000468611.1:n.788-9A>C
NM_005359.5:c.788-9A>C , LRG_318t1:c.788-9A>C	NP_005350.1:n.788-9A>C
NM_005359.6:c.788-9A>C MANE Select	NP_005350.1:n.788-9A>C