Canonical Allele Identifier: CA402463502

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2755845
• ClinVar RCV Id: RCV003597023
• dbSNP Id: rs2144428968
• MyVariant Identifiers: chr18:g.48584771C>G (hg19) ; chr18:g.51058401C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058401C>G , CM000680.2:g.51058401C>G	GRCh38
NC_000018.9:g.48584771C>G , CM000680.1:g.48584771C>G	GRCh37
NC_000018.8:g.46838769C>G	NCBI36
NG_013013.2:g.95362C>G , LRG_318:g.95362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.849C>G	ENSP00000465878.2:p.His283Gln
ENST00000589076.6:c.849C>G	ENSP00000466934.2:p.His283Gln
ENST00000589941.2:c.849C>G	ENSP00000465874.2:p.His283Gln
ENST00000590061.2:c.849C>G	ENSP00000464772.2:p.His283Gln
ENST00000593223.2:c.849C>G	ENSP00000466118.2:p.His283Gln
ENST00000611848.2:c.849C>G	ENSP00000478613.2:p.His283Gln
ENST00000684953.1:n.2221C>G
ENST00000685232.1:n.957C>G
ENST00000688307.1:n.156-1465C>G
ENST00000688574.1:n.957C>G
ENST00000688903.1:n.1063C>G
ENST00000690892.1:n.957C>G
ENST00000342988.8:c.849C>G MANE Select	ENSP00000341551.3:p.His283Gln
ENST00000342988.7:c.849C>G	ENSP00000341551.3:p.His283Gln
ENST00000398417.6:c.849C>G	ENSP00000381452.1:p.His283Gln
ENST00000588745.5:c.667+3408C>G	ENSP00000464901.1:n.667+3408C>G
ENST00000591126.5:n.2850C>G
ENST00000592186.5:c.849C>G	ENSP00000468611.1:p.His283Gln
ENST00000611848.1:c.49C>G
NM_005359.5:c.849C>G , LRG_318t1:c.849C>G	NP_005350.1:p.His283Gln
NM_005359.6:c.849C>G MANE Select	NP_005350.1:p.His283Gln