Canonical Allele Identifier: CA8965961

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1652058
• ClinVar RCV Id: RCV002154379
• dbSNP Id: rs577685240
• ExAC: 18:48586304 T / C
• gnomAD v2: 18-48586304-T-C
• gnomAD v3: 18-51059934-T-C
• gnomAD v4: 18-51059934-T-C
• MyVariant Identifiers: chr18:g.48586304T>C (hg19) ; chr18:g.51059934T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059934T>C , CM000680.2:g.51059934T>C	GRCh38
NC_000018.9:g.48586304T>C , CM000680.1:g.48586304T>C	GRCh37
NC_000018.8:g.46840302T>C	NCBI36
NG_013013.2:g.96895T>C , LRG_318:g.96895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955+18T>C	ENSP00000465878.2:n.955+18T>C
ENST00000589076.6:c.955+18T>C	ENSP00000466934.2:n.955+18T>C
ENST00000589941.2:c.955+18T>C	ENSP00000465874.2:n.955+18T>C
ENST00000590061.2:c.955+18T>C	ENSP00000464772.2:n.955+18T>C
ENST00000593223.2:c.955+18T>C	ENSP00000466118.2:n.955+18T>C
ENST00000611848.2:c.955+18T>C	ENSP00000478613.2:n.955+18T>C
ENST00000684953.1:n.2327+18T>C
ENST00000685090.1:n.1406+18T>C
ENST00000685232.1:n.1063+18T>C
ENST00000688307.1:n.206+18T>C
ENST00000688574.1:n.1063+18T>C
ENST00000688903.1:n.1169+18T>C
ENST00000690892.1:n.1081T>C
ENST00000342988.8:c.955+18T>C MANE Select	ENSP00000341551.3:n.955+18T>C
ENST00000342988.7:c.955+18T>C	ENSP00000341551.3:n.955+18T>C
ENST00000398417.6:c.955+18T>C	ENSP00000381452.1:n.955+18T>C
ENST00000588745.5:c.667+4941T>C	ENSP00000464901.1:n.667+4941T>C
ENST00000591126.5:n.2956+18T>C
ENST00000592186.5:c.955+18T>C	ENSP00000468611.1:n.955+18T>C
ENST00000611848.1:c.155+18T>C
NM_005359.5:c.955+18T>C , LRG_318t1:c.955+18T>C	NP_005350.1:n.955+18T>C
NM_005359.6:c.955+18T>C MANE Select	NP_005350.1:n.955+18T>C