Canonical Allele Identifier: CA8965780

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 492479
• ClinVar RCV Id: RCV000582033 ; RCV000608629 ; RCV000806604 ; RCV002529283 ; RCV004002378
• dbSNP Id: rs771456293
• ExAC: 18:48575236 T / C
• gnomAD v2: 18-48575236-T-C
• gnomAD v3: 18-51048866-T-C
• gnomAD v4: 18-51048866-T-C
• MyVariant Identifiers: chr18:g.48575236T>C (hg19) ; chr18:g.51048866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51048866T>C , CM000680.2:g.51048866T>C	GRCh38
NC_000018.9:g.48575236T>C , CM000680.1:g.48575236T>C	GRCh37
NC_000018.8:g.46829234T>C	NCBI36
NG_013013.2:g.85827T>C , LRG_318:g.85827T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.424+6T>C	ENSP00000465878.2:n.424+6T>C
ENST00000589076.6:c.424+6T>C	ENSP00000466934.2:n.424+6T>C
ENST00000589941.2:c.424+6T>C	ENSP00000465874.2:n.424+6T>C
ENST00000590061.2:c.424+6T>C	ENSP00000464772.2:n.424+6T>C
ENST00000593223.2:c.424+6T>C	ENSP00000466118.2:n.424+6T>C
ENST00000611848.2:c.424+6T>C	ENSP00000478613.2:n.424+6T>C
ENST00000342988.8:c.424+6T>C MANE Select	ENSP00000341551.3:n.424+6T>C
ENST00000342988.7:c.424+6T>C	ENSP00000341551.3:n.424+6T>C
ENST00000398417.6:c.424+6T>C	ENSP00000381452.1:n.424+6T>C
ENST00000588745.5:c.424+6T>C	ENSP00000464901.1:n.424+6T>C
ENST00000589706.1:n.292+6T>C
ENST00000590722.2:c.*447+6T>C	ENSP00000465737.1:n.*447+6T>C
ENST00000591914.5:c.424+6T>C	ENSP00000466941.1:n.424+6T>C
ENST00000592186.5:c.424+6T>C	ENSP00000468611.1:n.424+6T>C
ENST00000592911.5:n.202+6T>C
NM_005359.5:c.424+6T>C , LRG_318t1:c.424+6T>C	NP_005350.1:n.424+6T>C
NM_005359.6:c.424+6T>C MANE Select	NP_005350.1:n.424+6T>C