Canonical Allele Identifier: CA16608768

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 379190
• ClinVar RCV Id: RCV000427335 ; RCV000579788 ; RCV000679586 ; RCV001084748 ; RCV001123416 ; RCV001123417 ; RCV001391325 ; RCV002318979
• dbSNP Id: rs1057520520
• gnomAD v2: 18-48604670-T-C
• gnomAD v3: 18-51078300-T-C
• gnomAD v4: 18-51078300-T-C
• MyVariant Identifiers: chr18:g.48604670T>C (hg19) ; chr18:g.51078300T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078300T>C , CM000680.2:g.51078300T>C	GRCh38
NC_000018.9:g.48604670T>C , CM000680.1:g.48604670T>C	GRCh37
NC_000018.8:g.46858668T>C	NCBI36
NG_013013.2:g.115261T>C , LRG_318:g.115261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1492T>C	ENSP00000465878.2:p.Leu498=
ENST00000589076.6:c.1492T>C	ENSP00000466934.2:p.Leu498=
ENST00000589941.2:c.1492T>C	ENSP00000465874.2:p.Leu498=
ENST00000590061.2:c.1492T>C	ENSP00000464772.2:p.Leu498=
ENST00000593223.2:c.*1489T>C	ENSP00000466118.2:n.*1489T>C
ENST00000611848.2:c.*144T>C	ENSP00000478613.2:n.*144T>C
ENST00000684953.1:n.3507T>C
ENST00000685090.1:n.3422T>C
ENST00000685232.1:n.1713T>C
ENST00000688574.1:n.1600T>C
ENST00000691124.1:n.4453T>C
ENST00000342988.8:c.1492T>C MANE Select	ENSP00000341551.3:p.Leu498=
ENST00000342988.7:c.1492T>C	ENSP00000341551.3:p.Leu498=
ENST00000398417.6:c.1492T>C	ENSP00000381452.1:p.Leu498=
ENST00000586253.1:n.214T>C
ENST00000588745.5:c.1204T>C	ENSP00000464901.1:p.Leu402=
ENST00000591126.5:n.3493T>C
ENST00000592186.5:c.1139T>C	ENSP00000468611.1:n.1139T>C
ENST00000611848.1:c.805T>C
NM_005359.5:c.1492T>C , LRG_318t1:c.1492T>C	NP_005350.1:p.Leu498=
NM_005359.6:c.1492T>C MANE Select	NP_005350.1:p.Leu498=