Canonical Allele Identifier: CA061944

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 378620
• ClinVar RCV Id: RCV000444389 ; RCV001184487 ; RCV001803712
• dbSNP Id: rs200548744
• ExAC: 15:67457220 C / T
• gnomAD v2: 15-67457220-C-T
• gnomAD v3: 15-67164882-C-T
• gnomAD v4: 15-67164882-C-T
• MyVariant Identifiers: chr15:g.67457220C>T (hg19) ; chr15:g.67164882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164882C>T , CM000677.2:g.67164882C>T	GRCh38
NC_000015.9:g.67457220C>T , CM000677.1:g.67457220C>T	GRCh37
NC_000015.8:g.65244274C>T	NCBI36
NG_011990.1:g.104026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-109-13C>T	ENSP00000453684.2:n.-109-13C>T
ENST00000559460.6:c.-109-13C>T	ENSP00000453082.2:n.-109-13C>T
ENST00000560424.2:c.207-13C>T	ENSP00000455540.2:n.207-13C>T
ENST00000327367.9:c.207-13C>T MANE Select	ENSP00000332973.4:n.207-13C>T
ENST00000679624.1:c.-109-13C>T	ENSP00000505445.1:n.-109-13C>T
ENST00000681239.1:c.-109-13C>T	ENSP00000505641.1:n.-109-13C>T
ENST00000327367.8:c.207-13C>T	ENSP00000332973.4:n.207-13C>T
ENST00000439724.7:c.75-13C>T	ENSP00000401133.3:n.75-13C>T
ENST00000540846.6:c.-109-13C>T	ENSP00000437757.2:n.-109-13C>T
ENST00000558739.1:c.-109-13C>T	ENSP00000453684.1:n.-109-13C>T
ENST00000558894.5:c.-109-13C>T	ENSP00000458060.1:n.-109-13C>T
ENST00000559092.1:c.152-13C>T	ENSP00000453788.1:n.152-13C>T
ENST00000559460.5:c.-109-13C>T	ENSP00000453082.1:n.-109-13C>T
ENST00000559937.1:n.57-13C>T
ENST00000560175.5:c.-109-13C>T	ENSP00000455095.1:n.-109-13C>T
NM_001145102.1:c.-109-13C>T	NP_001138574.1:n.-109-13C>T
NM_001145103.1:c.75-13C>T	NP_001138575.1:n.75-13C>T
NM_005902.3:c.207-13C>T	NP_005893.1:n.207-13C>T
XM_011521559.1:c.207-13C>T	XP_011519861.1:n.207-13C>T
XM_011521560.1:c.60-13C>T	XP_011519862.1:n.60-13C>T
XM_011521559.3:c.207-13C>T	XP_011519861.1:n.207-13C>T
NM_005902.4:c.207-13C>T MANE Select	NP_005893.1:n.207-13C>T
NM_001145102.2:c.-109-13C>T	NP_001138574.1:n.-109-13C>T
NM_001145103.2:c.75-13C>T	NP_001138575.1:n.75-13C>T