Canonical Allele Identifier: CA14104809

Gene: SMAD3

Linked Data

• dbSNP Id: rs17228058
• gnomAD v2: 15-67450305-A-G
• gnomAD v3: 15-67157967-A-G
• gnomAD v4: 15-67157967-A-G
• MyVariant Identifiers: chr15:g.67450305A>G (hg19) ; chr15:g.67157967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67157967A>G , CM000677.2:g.67157967A>G	GRCh38
NC_000015.9:g.67450305A>G , CM000677.1:g.67450305A>G	GRCh37
NC_000015.8:g.65237359A>G	NCBI36
NG_011990.1:g.97111A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-109-6928A>G	ENSP00000453684.2:n.-109-6928A>G
ENST00000559460.6:c.-109-6928A>G	ENSP00000453082.2:n.-109-6928A>G
ENST00000560424.2:c.207-6928A>G	ENSP00000455540.2:n.207-6928A>G
ENST00000327367.9:c.207-6928A>G MANE Select	ENSP00000332973.4:n.207-6928A>G
ENST00000679624.1:c.-109-6928A>G	ENSP00000505445.1:n.-109-6928A>G
ENST00000681239.1:c.-109-6928A>G	ENSP00000505641.1:n.-109-6928A>G
ENST00000327367.8:c.207-6928A>G	ENSP00000332973.4:n.207-6928A>G
ENST00000439724.7:c.75-6928A>G	ENSP00000401133.3:n.75-6928A>G
ENST00000540846.6:c.-109-6928A>G	ENSP00000437757.2:n.-109-6928A>G
ENST00000558739.1:c.-109-6928A>G	ENSP00000453684.1:n.-109-6928A>G
ENST00000558894.5:c.-109-6928A>G	ENSP00000458060.1:n.-109-6928A>G
ENST00000559092.1:c.152-6928A>G	ENSP00000453788.1:n.152-6928A>G
ENST00000559460.5:c.-109-6928A>G	ENSP00000453082.1:n.-109-6928A>G
ENST00000559937.1:n.57-6928A>G
ENST00000560175.5:c.-109-6928A>G	ENSP00000455095.1:n.-109-6928A>G
NM_001145102.1:c.-109-6928A>G	NP_001138574.1:n.-109-6928A>G
NM_001145103.1:c.75-6928A>G	NP_001138575.1:n.75-6928A>G
NM_005902.3:c.207-6928A>G	NP_005893.1:n.207-6928A>G
XM_011521559.1:c.207-6928A>G	XP_011519861.1:n.207-6928A>G
XM_011521560.1:c.60-6928A>G	XP_011519862.1:n.60-6928A>G
XM_011521559.3:c.207-6928A>G	XP_011519861.1:n.207-6928A>G
NM_005902.4:c.207-6928A>G MANE Select	NP_005893.1:n.207-6928A>G
NM_001145102.2:c.-109-6928A>G	NP_001138574.1:n.-109-6928A>G
NM_001145103.2:c.75-6928A>G	NP_001138575.1:n.75-6928A>G