Canonical Allele Identifier: CA915951531

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 827058
• ClinVar RCV Id: RCV001059602 ; RCV002416307 ; RCV003478658
• dbSNP Id: rs1599189560

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058202_51058203delinsAG , CM000680.2:g.51058202_51058203delinsAG	GRCh38
NC_000018.9:g.48584572_48584573delinsAG , CM000680.1:g.48584572_48584573delinsAG	GRCh37
NC_000018.8:g.46838570_46838571delinsAG	NCBI36
NG_013013.2:g.95163_95164delinsAG , LRG_318:g.95163_95164delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.745_746delinsAG	ENSP00000465878.2:p.Gln249Arg
ENST00000589076.6:c.745_746delinsAG	ENSP00000466934.2:p.Gln249Arg
ENST00000589941.2:c.745_746delinsAG	ENSP00000465874.2:p.Gln249Arg
ENST00000590061.2:c.745_746delinsAG	ENSP00000464772.2:p.Gln249Arg
ENST00000593223.2:c.745_746delinsAG	ENSP00000466118.2:p.Gln249Arg
ENST00000611848.2:c.745_746delinsAG	ENSP00000478613.2:p.Gln249Arg
ENST00000684953.1:n.2117_2118delinsAG
ENST00000685232.1:n.853_854delinsAG
ENST00000688307.1:n.156-1664_156-1663delinsAG
ENST00000688574.1:n.853_854delinsAG
ENST00000688903.1:n.959_960delinsAG
ENST00000690892.1:n.853_854delinsAG
ENST00000342988.8:c.745_746delinsAG MANE Select	ENSP00000341551.3:p.Gln249Arg
ENST00000342988.7:c.745_746delinsAG	ENSP00000341551.3:p.Gln249Arg
ENST00000398417.6:c.745_746delinsAG	ENSP00000381452.1:p.Gln249Arg
ENST00000588745.5:c.667+3209_667+3210delinsAG	ENSP00000464901.1:n.667+3209_667+3210delinsAG
ENST00000591126.5:n.2746_2747delinsAG
ENST00000592186.5:c.745_746delinsAG	ENSP00000468611.1:p.Gln249Arg
NM_005359.5:c.745_746delinsAG , LRG_318t1:c.745_746delinsAG	NP_005350.1:p.Gln249Arg
NM_005359.6:c.745_746delinsAG MANE Select	NP_005350.1:p.Gln249Arg