Canonical Allele Identifier: CA503873252

Gene: SMAD4

Linked Data

• dbSNP Id: rs1205047907
• gnomAD v2: 18-48573364-A-C
• gnomAD v4: 18-51046994-A-C
• MyVariant Identifiers: chr18:g.48573364A>C (hg19) ; chr18:g.51046994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51046994A>C , CM000680.2:g.51046994A>C	GRCh38
NC_000018.9:g.48573364A>C , CM000680.1:g.48573364A>C	GRCh37
NC_000018.8:g.46827362A>C	NCBI36
NG_013013.2:g.83955A>C , LRG_318:g.83955A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-53A>C	ENSP00000465878.2:n.-53A>C
ENST00000589076.6:c.-53A>C	ENSP00000466934.2:n.-53A>C
ENST00000589941.2:c.-53A>C	ENSP00000465874.2:n.-53A>C
ENST00000590061.2:c.-53A>C	ENSP00000464772.2:n.-53A>C
ENST00000593223.2:c.-53A>C	ENSP00000466118.2:n.-53A>C
ENST00000611848.2:c.-53A>C	ENSP00000478613.2:n.-53A>C
ENST00000342988.8:c.-53A>C MANE Select	ENSP00000341551.3:n.-53A>C
ENST00000342988.7:c.-53A>C	ENSP00000341551.3:n.-53A>C
ENST00000398417.6:c.-53A>C	ENSP00000381452.1:n.-53A>C
ENST00000588256.1:n.409A>C
ENST00000588860.5:c.-53A>C	ENSP00000465878.1:n.-53A>C
ENST00000589076.5:c.-53A>C	ENSP00000466934.1:n.-53A>C
ENST00000589941.1:c.-53A>C	ENSP00000465874.1:n.-53A>C
ENST00000590061.1:c.-53A>C	ENSP00000464772.1:n.-53A>C
ENST00000590722.2:c.232A>C	ENSP00000465737.1:p.Asn78His
ENST00000591914.5:c.-53A>C	ENSP00000466941.1:n.-53A>C
ENST00000592911.5:n.28-1692A>C
NM_005359.5:c.-53A>C , LRG_318t1:c.-53A>C	NP_005350.1:n.-53A>C
NM_005359.6:c.-53A>C MANE Select	NP_005350.1:n.-53A>C