Canonical Allele Identifier: CA8966103

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 484809
• ClinVar RCV Id: RCV002311925
• dbSNP Id: rs773367516
• ExAC: 18:48604710 C / T
• gnomAD v2: 18-48604710-C-T
• gnomAD v3: 18-51078340-C-T
• gnomAD v4: 18-51078340-C-T
• COSMIC: COSM6438212
• MyVariant Identifiers: chr18:g.48604710C>T (hg19) ; chr18:g.51078340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078340C>T , CM000680.2:g.51078340C>T	GRCh38
NC_000018.9:g.48604710C>T , CM000680.1:g.48604710C>T	GRCh37
NC_000018.8:g.46858708C>T	NCBI36
NG_013013.2:g.115301C>T , LRG_318:g.115301C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1532C>T	ENSP00000465878.2:p.Pro511Leu
ENST00000589076.6:c.1532C>T	ENSP00000466934.2:p.Pro511Leu
ENST00000589941.2:c.1532C>T	ENSP00000465874.2:p.Pro511Leu
ENST00000590061.2:c.1532C>T	ENSP00000464772.2:p.Pro511Leu
ENST00000593223.2:c.*1529C>T	ENSP00000466118.2:n.*1529C>T
ENST00000611848.2:c.*184C>T	ENSP00000478613.2:n.*184C>T
ENST00000684953.1:n.3547C>T
ENST00000685090.1:n.3462C>T
ENST00000685232.1:n.1753C>T
ENST00000688574.1:n.1640C>T
ENST00000691124.1:n.4493C>T
ENST00000342988.8:c.1532C>T MANE Select	ENSP00000341551.3:p.Pro511Leu
ENST00000342988.7:c.1532C>T	ENSP00000341551.3:p.Pro511Leu
ENST00000398417.6:c.1532C>T	ENSP00000381452.1:p.Pro511Leu
ENST00000586253.1:n.254C>T
ENST00000588745.5:c.1244C>T	ENSP00000464901.1:p.Pro415Leu
ENST00000591126.5:n.3533C>T
ENST00000592186.5:c.1179C>T	ENSP00000468611.1:n.1179C>T
ENST00000611848.1:c.845C>T
NM_005359.5:c.1532C>T , LRG_318t1:c.1532C>T	NP_005350.1:p.Pro511Leu
NM_005359.6:c.1532C>T MANE Select	NP_005350.1:p.Pro511Leu