Canonical Allele Identifier: CA2184423174

Gene: SMAD3

Linked Data

• dbSNP Id: rs1963386959

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192330C>G , CM000677.2:g.67192330C>G	GRCh38
NC_000015.9:g.67484668C>G , CM000677.1:g.67484668C>G	GRCh37
NC_000015.8:g.65271722C>G	NCBI36
NG_011990.1:g.131474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*1794C>G	ENSP00000453684.2:n.*1794C>G
ENST00000559460.6:c.*1794C>G	ENSP00000453082.2:n.*1794C>G
ENST00000327367.9:c.*1794C>G MANE Select	ENSP00000332973.4:n.*1794C>G
ENST00000679624.1:c.*1794C>G	ENSP00000505445.1:n.*1794C>G
ENST00000681239.1:c.*1794C>G	ENSP00000505641.1:n.*1794C>G
ENST00000327367.8:c.*1794C>G	ENSP00000332973.4:n.*1794C>G
ENST00000560402.1:n.283-543C>G
NM_001145102.1:c.*1794C>G	NP_001138574.1:n.*1794C>G
NM_001145103.1:c.*1794C>G	NP_001138575.1:n.*1794C>G
NM_001145104.1:c.*1794C>G	NP_001138576.1:n.*1794C>G
NM_005902.3:c.*1794C>G	NP_005893.1:n.*1794C>G
XM_011521559.1:c.*1794C>G	XP_011519861.1:n.*1794C>G
XM_011521560.1:c.*1794C>G	XP_011519862.1:n.*1794C>G
XM_011521559.3:c.*1794C>G	XP_011519861.1:n.*1794C>G
NM_005902.4:c.*1794C>G MANE Select	NP_005893.1:n.*1794C>G
NM_001145102.2:c.*1794C>G	NP_001138574.1:n.*1794C>G
NM_001145103.2:c.*1794C>G	NP_001138575.1:n.*1794C>G
NM_001145104.2:c.*1794C>G	NP_001138576.1:n.*1794C>G