Canonical Allele Identifier: CA062557

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 213757
• ClinVar RCV Id: RCV000198739 ; RCV000247846 ; RCV000384358 ; RCV002277539 ; RCV003996911
• dbSNP Id: rs187952791
• ExAC: 15:67358558 G / A
• gnomAD v2: 15-67358558-G-A
• gnomAD v3: 15-67066220-G-A
• gnomAD v4: 15-67066220-G-A
• MyVariant Identifiers: chr15:g.67358558G>A (hg19) ; chr15:g.67066220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066220G>A , CM000677.2:g.67066220G>A	GRCh38
NC_000015.9:g.67358558G>A , CM000677.1:g.67358558G>A	GRCh37
NC_000015.8:g.65145612G>A	NCBI36
NG_011990.1:g.5364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2276G>A	ENSP00000453082.2:n.-110+2276G>A
ENST00000560424.2:c.66G>A	ENSP00000455540.2:p.Glu22=
ENST00000327367.9:c.66G>A MANE Select	ENSP00000332973.4:p.Glu22=
ENST00000327367.8:c.66G>A	ENSP00000332973.4:p.Glu22=
ENST00000559460.5:c.-110+2276G>A	ENSP00000453082.1:n.-110+2276G>A
NM_005902.3:c.66G>A	NP_005893.1:p.Glu22=
XM_011521559.1:c.66G>A	XP_011519861.1:p.Glu22=
XM_011521559.3:c.66G>A	XP_011519861.1:p.Glu22=
NM_005902.4:c.66G>A MANE Select	NP_005893.1:p.Glu22=