Canonical Allele Identifier: CA8966097

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2817818
• ClinVar RCV Id: RCV003762493
• dbSNP Id: rs746584218
• ExAC: 18:48604609 C / T
• gnomAD v2: 18-48604609-C-T
• gnomAD v4: 18-51078239-C-T
• MyVariant Identifiers: chr18:g.48604609C>T (hg19) ; chr18:g.51078239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078239C>T , CM000680.2:g.51078239C>T	GRCh38
NC_000018.9:g.48604609C>T , CM000680.1:g.48604609C>T	GRCh37
NC_000018.8:g.46858607C>T	NCBI36
NG_013013.2:g.115200C>T , LRG_318:g.115200C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1448-17C>T	ENSP00000465878.2:n.1448-17C>T
ENST00000589076.6:c.1448-17C>T	ENSP00000466934.2:n.1448-17C>T
ENST00000589941.2:c.1448-17C>T	ENSP00000465874.2:n.1448-17C>T
ENST00000590061.2:c.1448-17C>T	ENSP00000464772.2:n.1448-17C>T
ENST00000593223.2:c.*1428C>T	ENSP00000466118.2:n.*1428C>T
ENST00000611848.2:c.*100-17C>T	ENSP00000478613.2:n.*100-17C>T
ENST00000684953.1:n.3463-17C>T
ENST00000685090.1:n.3361C>T
ENST00000685232.1:n.1669-17C>T
ENST00000688574.1:n.1556-17C>T
ENST00000691124.1:n.4392C>T
ENST00000342988.8:c.1448-17C>T MANE Select	ENSP00000341551.3:n.1448-17C>T
ENST00000342988.7:c.1448-17C>T	ENSP00000341551.3:n.1448-17C>T
ENST00000398417.6:c.1448-17C>T	ENSP00000381452.1:n.1448-17C>T
ENST00000586253.1:n.170-17C>T
ENST00000588745.5:c.1160-17C>T	ENSP00000464901.1:n.1160-17C>T
ENST00000591126.5:n.3449-17C>T
ENST00000592186.5:c.1095-17C>T	ENSP00000468611.1:n.1095-17C>T
ENST00000611848.1:c.761-17C>T
NM_005359.5:c.1448-17C>T , LRG_318t1:c.1448-17C>T	NP_005350.1:n.1448-17C>T
NM_005359.6:c.1448-17C>T MANE Select	NP_005350.1:n.1448-17C>T