Canonical Allele Identifier: CA10636433

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 316929
• ClinVar RCV Id: RCV000261861 ; RCV000301940 ; RCV001094319 ; RCV001718655
• dbSNP Id: rs11638476
• gnomAD v2: 15-67485101-G-A
• gnomAD v3: 15-67192763-G-A
• gnomAD v4: 15-67192763-G-A
• MyVariant Identifiers: chr15:g.67485101G>A (hg19) ; chr15:g.67192763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192763G>A , CM000677.2:g.67192763G>A	GRCh38
NC_000015.9:g.67485101G>A , CM000677.1:g.67485101G>A	GRCh37
NC_000015.8:g.65272155G>A	NCBI36
NG_011990.1:g.131907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*2227G>A	ENSP00000453684.2:n.*2227G>A
ENST00000559460.6:c.*2227G>A	ENSP00000453082.2:n.*2227G>A
ENST00000327367.9:c.*2227G>A MANE Select	ENSP00000332973.4:n.*2227G>A
ENST00000679624.1:c.*2227G>A	ENSP00000505445.1:n.*2227G>A
ENST00000681239.1:c.*2227G>A	ENSP00000505641.1:n.*2227G>A
ENST00000327367.8:c.*2227G>A	ENSP00000332973.4:n.*2227G>A
ENST00000560402.1:n.283-110G>A
NM_001145102.1:c.*2227G>A	NP_001138574.1:n.*2227G>A
NM_001145103.1:c.*2227G>A	NP_001138575.1:n.*2227G>A
NM_001145104.1:c.*2227G>A	NP_001138576.1:n.*2227G>A
NM_005902.3:c.*2227G>A	NP_005893.1:n.*2227G>A
XM_011521559.1:c.*2227G>A	XP_011519861.1:n.*2227G>A
XM_011521560.1:c.*2227G>A	XP_011519862.1:n.*2227G>A
XM_011521559.3:c.*2227G>A	XP_011519861.1:n.*2227G>A
NM_005902.4:c.*2227G>A MANE Select	NP_005893.1:n.*2227G>A
NM_001145102.2:c.*2227G>A	NP_001138574.1:n.*2227G>A
NM_001145103.2:c.*2227G>A	NP_001138575.1:n.*2227G>A
NM_001145104.2:c.*2227G>A	NP_001138576.1:n.*2227G>A