Canonical Allele Identifier: CA300086183

Gene: SMAD4

Linked Data

• dbSNP Id: rs188634737
• gnomAD v2: 18-48584401-G-T
• gnomAD v3: 18-51058031-G-T
• gnomAD v4: 18-51058031-G-T
• MyVariant Identifiers: chr18:g.48584401G>T (hg19) ; chr18:g.51058031G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058031G>T , CM000680.2:g.51058031G>T	GRCh38
NC_000018.9:g.48584401G>T , CM000680.1:g.48584401G>T	GRCh37
NC_000018.8:g.46838399G>T	NCBI36
NG_013013.2:g.94992G>T , LRG_318:g.94992G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.668-94G>T	ENSP00000465878.2:n.668-94G>T
ENST00000589076.6:c.668-94G>T	ENSP00000466934.2:n.668-94G>T
ENST00000589941.2:c.668-94G>T	ENSP00000465874.2:n.668-94G>T
ENST00000590061.2:c.668-94G>T	ENSP00000464772.2:n.668-94G>T
ENST00000593223.2:c.668-94G>T	ENSP00000466118.2:n.668-94G>T
ENST00000611848.2:c.668-94G>T	ENSP00000478613.2:n.668-94G>T
ENST00000684953.1:n.2040-94G>T
ENST00000685232.1:n.682G>T
ENST00000688307.1:n.156-1835G>T
ENST00000688574.1:n.682G>T
ENST00000688903.1:n.788G>T
ENST00000690892.1:n.682G>T
ENST00000342988.8:c.668-94G>T MANE Select	ENSP00000341551.3:n.668-94G>T
ENST00000342988.7:c.668-94G>T	ENSP00000341551.3:n.668-94G>T
ENST00000398417.6:c.668-94G>T	ENSP00000381452.1:n.668-94G>T
ENST00000588745.5:c.667+3038G>T	ENSP00000464901.1:n.667+3038G>T
ENST00000590722.2:c.*844-94G>T	ENSP00000465737.1:n.*844-94G>T
ENST00000591126.5:n.2669-94G>T
ENST00000592186.5:c.668-94G>T	ENSP00000468611.1:n.668-94G>T
ENST00000592911.5:n.446-94G>T
NM_005359.5:c.668-94G>T , LRG_318t1:c.668-94G>T	NP_005350.1:n.668-94G>T
NM_005359.6:c.668-94G>T MANE Select	NP_005350.1:n.668-94G>T