Canonical Allele Identifier: CA191787

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 185388
• ClinVar RCV Id: RCV000164798 ; RCV000196374 ; RCV001508829 ; RCV001328522 ; RCV002310740 ; RCV003316029
• dbSNP Id: rs751985298
• ExAC: 18:48584570 A / T
• gnomAD v2: 18-48584570-A-T
• gnomAD v3: 18-51058200-A-T
• gnomAD v4: 18-51058200-A-T
• MyVariant Identifiers: chr18:g.48584570A>T (hg19) ; chr18:g.51058200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058200A>T , CM000680.2:g.51058200A>T	GRCh38
NC_000018.9:g.48584570A>T , CM000680.1:g.48584570A>T	GRCh37
NC_000018.8:g.46838568A>T	NCBI36
NG_013013.2:g.95161A>T , LRG_318:g.95161A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.743A>T	ENSP00000465878.2:p.Gln248Leu
ENST00000589076.6:c.743A>T	ENSP00000466934.2:p.Gln248Leu
ENST00000589941.2:c.743A>T	ENSP00000465874.2:p.Gln248Leu
ENST00000590061.2:c.743A>T	ENSP00000464772.2:p.Gln248Leu
ENST00000593223.2:c.743A>T	ENSP00000466118.2:p.Gln248Leu
ENST00000611848.2:c.743A>T	ENSP00000478613.2:p.Gln248Leu
ENST00000684953.1:n.2115A>T
ENST00000685232.1:n.851A>T
ENST00000688307.1:n.156-1666A>T
ENST00000688574.1:n.851A>T
ENST00000688903.1:n.957A>T
ENST00000690892.1:n.851A>T
ENST00000342988.8:c.743A>T MANE Select	ENSP00000341551.3:p.Gln248Leu
ENST00000342988.7:c.743A>T	ENSP00000341551.3:p.Gln248Leu
ENST00000398417.6:c.743A>T	ENSP00000381452.1:p.Gln248Leu
ENST00000588745.5:c.667+3207A>T	ENSP00000464901.1:n.667+3207A>T
ENST00000591126.5:n.2744A>T
ENST00000592186.5:c.743A>T	ENSP00000468611.1:p.Gln248Leu
NM_005359.5:c.743A>T , LRG_318t1:c.743A>T	NP_005350.1:p.Gln248Leu
NM_005359.6:c.743A>T MANE Select	NP_005350.1:p.Gln248Leu