Canonical Allele Identifier: CA8965958

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 387518
• ClinVar RCV Id: RCV000417972 ; RCV001019481 ; RCV002429418 ; RCV004000472 ; RCV001087625
• dbSNP Id: rs773615487
• ExAC: 18:48586285 T / C
• gnomAD v2: 18-48586285-T-C
• gnomAD v4: 18-51059915-T-C
• MyVariant Identifiers: chr18:g.48586285T>C (hg19) ; chr18:g.51059915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059915T>C , CM000680.2:g.51059915T>C	GRCh38
NC_000018.9:g.48586285T>C , CM000680.1:g.48586285T>C	GRCh37
NC_000018.8:g.46840283T>C	NCBI36
NG_013013.2:g.96876T>C , LRG_318:g.96876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.954T>C	ENSP00000465878.2:p.Pro318=
ENST00000589076.6:c.954T>C	ENSP00000466934.2:p.Pro318=
ENST00000589941.2:c.954T>C	ENSP00000465874.2:p.Pro318=
ENST00000590061.2:c.954T>C	ENSP00000464772.2:p.Pro318=
ENST00000593223.2:c.954T>C	ENSP00000466118.2:p.Pro318=
ENST00000611848.2:c.954T>C	ENSP00000478613.2:p.Pro318=
ENST00000684953.1:n.2326T>C
ENST00000685090.1:n.1405T>C
ENST00000685232.1:n.1062T>C
ENST00000688307.1:n.205T>C
ENST00000688574.1:n.1062T>C
ENST00000688903.1:n.1168T>C
ENST00000690892.1:n.1062T>C
ENST00000342988.8:c.954T>C MANE Select	ENSP00000341551.3:p.Pro318=
ENST00000342988.7:c.954T>C	ENSP00000341551.3:p.Pro318=
ENST00000398417.6:c.954T>C	ENSP00000381452.1:p.Pro318=
ENST00000588745.5:c.667+4922T>C	ENSP00000464901.1:n.667+4922T>C
ENST00000591126.5:n.2955T>C
ENST00000592186.5:c.954T>C	ENSP00000468611.1:p.Pro318=
ENST00000611848.1:c.154T>C
NM_005359.5:c.954T>C , LRG_318t1:c.954T>C	NP_005350.1:p.Pro318=
NM_005359.6:c.954T>C MANE Select	NP_005350.1:p.Pro318=