Canonical Allele Identifier: CA402457959

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 484812
• ClinVar RCV Id: RCV002232645 ; RCV002311928
• dbSNP Id: rs1064794204
• MyVariant Identifiers: chr18:g.48573597A>C (hg19) ; chr18:g.51047227A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047227A>C , CM000680.2:g.51047227A>C	GRCh38
NC_000018.9:g.48573597A>C , CM000680.1:g.48573597A>C	GRCh37
NC_000018.8:g.46827595A>C	NCBI36
NG_013013.2:g.84188A>C , LRG_318:g.84188A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.181A>C	ENSP00000465878.2:p.Ile61Leu
ENST00000589076.6:c.181A>C	ENSP00000466934.2:p.Ile61Leu
ENST00000589941.2:c.181A>C	ENSP00000465874.2:p.Ile61Leu
ENST00000590061.2:c.181A>C	ENSP00000464772.2:p.Ile61Leu
ENST00000593223.2:c.181A>C	ENSP00000466118.2:p.Ile61Leu
ENST00000611848.2:c.181A>C	ENSP00000478613.2:p.Ile61Leu
ENST00000342988.8:c.181A>C MANE Select	ENSP00000341551.3:p.Ile61Leu
ENST00000342988.7:c.181A>C	ENSP00000341551.3:p.Ile61Leu
ENST00000398417.6:c.181A>C	ENSP00000381452.1:p.Ile61Leu
ENST00000588745.5:c.181A>C	ENSP00000464901.1:p.Ile61Leu
ENST00000588860.5:c.181A>C	ENSP00000465878.1:p.Ile61Leu
ENST00000589076.5:c.181A>C	ENSP00000466934.1:p.Ile61Leu
ENST00000589706.1:n.49A>C
ENST00000589941.1:c.181A>C	ENSP00000465874.1:p.Ile61Leu
ENST00000590061.1:c.181A>C	ENSP00000464772.1:p.Ile61Leu
ENST00000590722.2:c.*204A>C	ENSP00000465737.1:n.*204A>C
ENST00000591914.5:c.181A>C	ENSP00000466941.1:p.Ile61Leu
ENST00000592186.5:c.181A>C	ENSP00000468611.1:p.Ile61Leu
ENST00000592911.5:n.28-1459A>C
NM_005359.5:c.181A>C , LRG_318t1:c.181A>C	NP_005350.1:p.Ile61Leu
NM_005359.6:c.181A>C MANE Select	NP_005350.1:p.Ile61Leu