Canonical Allele Identifier: CA8966022

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 818584
• ClinVar RCV Id: RCV001466806 ; RCV002318919
• dbSNP Id: rs758696549
• ExAC: 18:48593455 T / C
• gnomAD v2: 18-48593455-T-C
• gnomAD v4: 18-51067085-T-C
• MyVariant Identifiers: chr18:g.48593455T>C (hg19) ; chr18:g.51067085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067085T>C , CM000680.2:g.51067085T>C	GRCh38
NC_000018.9:g.48593455T>C , CM000680.1:g.48593455T>C	GRCh37
NC_000018.8:g.46847453T>C	NCBI36
NG_013013.2:g.104046T>C , LRG_318:g.104046T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1206T>C	ENSP00000465878.2:p.Leu402=
ENST00000589076.6:c.1206T>C	ENSP00000466934.2:p.Leu402=
ENST00000589941.2:c.1206T>C	ENSP00000465874.2:p.Leu402=
ENST00000590061.2:c.1206T>C	ENSP00000464772.2:p.Leu402=
ENST00000593223.2:c.1206T>C	ENSP00000466118.2:p.Leu402=
ENST00000611848.2:c.1206T>C	ENSP00000478613.2:p.Leu402=
ENST00000684953.1:n.2578T>C
ENST00000685090.1:n.1657T>C
ENST00000685232.1:n.1314T>C
ENST00000688574.1:n.1314T>C
ENST00000691124.1:n.2688T>C
ENST00000342988.8:c.1206T>C MANE Select	ENSP00000341551.3:p.Leu402=
ENST00000342988.7:c.1206T>C	ENSP00000341551.3:p.Leu402=
ENST00000398417.6:c.1206T>C	ENSP00000381452.1:p.Leu402=
ENST00000588745.5:c.918T>C	ENSP00000464901.1:p.Leu306=
ENST00000590499.1:n.264T>C
ENST00000591126.5:n.3207T>C
ENST00000592186.5:c.955+7169T>C	ENSP00000468611.1:n.955+7169T>C
ENST00000611848.1:c.406T>C
NM_005359.5:c.1206T>C , LRG_318t1:c.1206T>C	NP_005350.1:p.Leu402=
NM_005359.6:c.1206T>C MANE Select	NP_005350.1:p.Leu402=