Canonical Allele Identifier: CA645294117

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 426048
• ClinVar RCV Id: RCV001045558
• dbSNP Id: rs1085307437
• gnomAD v4: 18-51078250-T-C
• MyVariant Identifiers: chr18:g.48604620T>C (hg19) ; chr18:g.51078250T>C (hg38)
• PubMed: PMID:21898662 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078250T>C , CM000680.2:g.51078250T>C	GRCh38
NC_000018.9:g.48604620T>C , CM000680.1:g.48604620T>C	GRCh37
NC_000018.8:g.46858618T>C	NCBI36
NG_013013.2:g.115211T>C , LRG_318:g.115211T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1448-6T>C	ENSP00000465878.2:n.1448-6T>C
ENST00000589076.6:c.1448-6T>C	ENSP00000466934.2:n.1448-6T>C
ENST00000589941.2:c.1448-6T>C	ENSP00000465874.2:n.1448-6T>C
ENST00000590061.2:c.1448-6T>C	ENSP00000464772.2:n.1448-6T>C
ENST00000593223.2:c.*1439T>C	ENSP00000466118.2:n.*1439T>C
ENST00000611848.2:c.*100-6T>C	ENSP00000478613.2:n.*100-6T>C
ENST00000684953.1:n.3463-6T>C
ENST00000685090.1:n.3372T>C
ENST00000685232.1:n.1669-6T>C
ENST00000688574.1:n.1556-6T>C
ENST00000691124.1:n.4403T>C
ENST00000342988.8:c.1448-6T>C MANE Select	ENSP00000341551.3:n.1448-6T>C
ENST00000342988.7:c.1448-6T>C	ENSP00000341551.3:n.1448-6T>C
ENST00000398417.6:c.1448-6T>C	ENSP00000381452.1:n.1448-6T>C
ENST00000586253.1:n.170-6T>C
ENST00000588745.5:c.1160-6T>C	ENSP00000464901.1:n.1160-6T>C
ENST00000591126.5:n.3449-6T>C
ENST00000592186.5:c.1095-6T>C	ENSP00000468611.1:n.1095-6T>C
ENST00000611848.1:c.761-6T>C
NM_005359.5:c.1448-6T>C , LRG_318t1:c.1448-6T>C	NP_005350.1:n.1448-6T>C
NM_005359.6:c.1448-6T>C MANE Select	NP_005350.1:n.1448-6T>C