Canonical Allele Identifier: CA14104804

Gene: SMAD3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67150258C>T , CM000677.2:g.67150258C>T	GRCh38
NC_000015.9:g.67442596C>T , CM000677.1:g.67442596C>T	GRCh37
NC_000015.8:g.65229650C>T	NCBI36
NG_011990.1:g.89402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-110+11736C>T	ENSP00000453684.2:n.-110+11736C>T
ENST00000559460.6:c.-109-14637C>T	ENSP00000453082.2:n.-109-14637C>T
ENST00000560424.2:c.207-14637C>T	ENSP00000455540.2:n.207-14637C>T
ENST00000327367.9:c.207-14637C>T MANE Select	ENSP00000332973.4:n.207-14637C>T
ENST00000679624.1:c.-109-14637C>T	ENSP00000505445.1:n.-109-14637C>T
ENST00000681239.1:c.-110+10536C>T	ENSP00000505641.1:n.-110+10536C>T
ENST00000327367.8:c.207-14637C>T	ENSP00000332973.4:n.207-14637C>T
ENST00000439724.7:c.74+12158C>T	ENSP00000401133.3:n.74+12158C>T
ENST00000540846.6:c.-109-14637C>T	ENSP00000437757.2:n.-109-14637C>T
ENST00000558739.1:c.-110+11736C>T	ENSP00000453684.1:n.-110+11736C>T
ENST00000558894.5:c.-109-14637C>T	ENSP00000458060.1:n.-109-14637C>T
ENST00000559092.1:c.152-14637C>T	ENSP00000453788.1:n.152-14637C>T
ENST00000559460.5:c.-109-14637C>T	ENSP00000453082.1:n.-109-14637C>T
ENST00000559937.1:n.57-14637C>T
ENST00000560175.5:c.-109-14637C>T	ENSP00000455095.1:n.-109-14637C>T
NM_001145102.1:c.-109-14637C>T	NP_001138574.1:n.-109-14637C>T
NM_001145103.1:c.74+12158C>T	NP_001138575.1:n.74+12158C>T
NM_005902.3:c.207-14637C>T	NP_005893.1:n.207-14637C>T
XM_011521559.1:c.207-14637C>T	XP_011519861.1:n.207-14637C>T
XM_011521560.1:c.60-14637C>T	XP_011519862.1:n.60-14637C>T
XM_011521559.3:c.207-14637C>T	XP_011519861.1:n.207-14637C>T
NM_005902.4:c.207-14637C>T MANE Select	NP_005893.1:n.207-14637C>T
NM_001145102.2:c.-109-14637C>T	NP_001138574.1:n.-109-14637C>T
NM_001145103.2:c.74+12158C>T	NP_001138575.1:n.74+12158C>T