Canonical Allele Identifier: CA10647307

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 316888
• ClinVar RCV Id: RCV000302903 ; RCV000360046 ; RCV003311753
• dbSNP Id: rs138327222
• gnomAD v2: 15-67483672-G-A
• gnomAD v3: 15-67191334-G-A
• gnomAD v4: 15-67191334-G-A
• MyVariant Identifiers: chr15:g.67483672G>A (hg19) ; chr15:g.67191334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67191334G>A , CM000677.2:g.67191334G>A	GRCh38
NC_000015.9:g.67483672G>A , CM000677.1:g.67483672G>A	GRCh37
NC_000015.8:g.65270726G>A	NCBI36
NG_011990.1:g.130478G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.*798G>A	ENSP00000454165.2:n.*798G>A
ENST00000558739.2:c.*798G>A	ENSP00000453684.2:n.*798G>A
ENST00000558827.2:c.*798G>A	ENSP00000452767.2:n.*798G>A
ENST00000559460.6:c.*798G>A	ENSP00000453082.2:n.*798G>A
ENST00000560424.2:c.*798G>A	ENSP00000455540.2:n.*798G>A
ENST00000327367.9:c.*798G>A MANE Select	ENSP00000332973.4:n.*798G>A
ENST00000679624.1:c.*798G>A	ENSP00000505445.1:n.*798G>A
ENST00000681239.1:c.*798G>A	ENSP00000505641.1:n.*798G>A
ENST00000327367.8:c.*798G>A	ENSP00000332973.4:n.*798G>A
ENST00000558763.1:n.1770G>A
ENST00000560402.1:n.283-1539G>A
NM_001145102.1:c.*798G>A	NP_001138574.1:n.*798G>A
NM_001145103.1:c.*798G>A	NP_001138575.1:n.*798G>A
NM_001145104.1:c.*798G>A	NP_001138576.1:n.*798G>A
NM_005902.3:c.*798G>A	NP_005893.1:n.*798G>A
XM_011521559.1:c.*798G>A	XP_011519861.1:n.*798G>A
XM_011521560.1:c.*798G>A	XP_011519862.1:n.*798G>A
XM_011521559.3:c.*798G>A	XP_011519861.1:n.*798G>A
NM_005902.4:c.*798G>A MANE Select	NP_005893.1:n.*798G>A
NM_001145102.2:c.*798G>A	NP_001138574.1:n.*798G>A
NM_001145103.2:c.*798G>A	NP_001138575.1:n.*798G>A
NM_001145104.2:c.*798G>A	NP_001138576.1:n.*798G>A