Canonical Allele Identifier: CA8965907

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 484804
• ClinVar RCV Id: RCV000571444 ; RCV000635500 ; RCV001124421 ; RCV001124422 ; RCV001420983 ; RCV002311920
• dbSNP Id: rs763510526
• ExAC: 18:48584711 C / T
• gnomAD v2: 18-48584711-C-T
• gnomAD v3: 18-51058341-C-T
• gnomAD v4: 18-51058341-C-T
• MyVariant Identifiers: chr18:g.48584711C>T (hg19) ; chr18:g.51058341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058341C>T , CM000680.2:g.51058341C>T	GRCh38
NC_000018.9:g.48584711C>T , CM000680.1:g.48584711C>T	GRCh37
NC_000018.8:g.46838709C>T	NCBI36
NG_013013.2:g.95302C>T , LRG_318:g.95302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.789C>T	ENSP00000465878.2:p.Asn263=
ENST00000589076.6:c.789C>T	ENSP00000466934.2:p.Asn263=
ENST00000589941.2:c.789C>T	ENSP00000465874.2:p.Asn263=
ENST00000590061.2:c.789C>T	ENSP00000464772.2:p.Asn263=
ENST00000593223.2:c.789C>T	ENSP00000466118.2:p.Asn263=
ENST00000611848.2:c.789C>T	ENSP00000478613.2:p.Asn263=
ENST00000684953.1:n.2161C>T
ENST00000685232.1:n.897C>T
ENST00000688307.1:n.156-1525C>T
ENST00000688574.1:n.897C>T
ENST00000688903.1:n.1003C>T
ENST00000690892.1:n.897C>T
ENST00000342988.8:c.789C>T MANE Select	ENSP00000341551.3:p.Asn263=
ENST00000342988.7:c.789C>T	ENSP00000341551.3:p.Asn263=
ENST00000398417.6:c.789C>T	ENSP00000381452.1:p.Asn263=
ENST00000588745.5:c.667+3348C>T	ENSP00000464901.1:n.667+3348C>T
ENST00000591126.5:n.2790C>T
ENST00000592186.5:c.789C>T	ENSP00000468611.1:p.Asn263=
NM_005359.5:c.789C>T , LRG_318t1:c.789C>T	NP_005350.1:p.Asn263=
NM_005359.6:c.789C>T MANE Select	NP_005350.1:p.Asn263=