Canonical Allele Identifier: CA062305

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 390771
• ClinVar RCV Id: RCV001177691 ; RCV000864498 ; RCV004000548
• dbSNP Id: rs375925515
• ExAC: 15:67457700 C / T
• gnomAD v2: 15-67457700-C-T
• gnomAD v3: 15-67165362-C-T
• gnomAD v4: 15-67165362-C-T
• MyVariant Identifiers: chr15:g.67457700C>T (hg19) ; chr15:g.67165362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165362C>T , CM000677.2:g.67165362C>T	GRCh38
NC_000015.9:g.67457700C>T , CM000677.1:g.67457700C>T	GRCh37
NC_000015.8:g.65244754C>T	NCBI36
NG_011990.1:g.104506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.195C>T	ENSP00000453684.2:p.Ile65=
ENST00000559460.6:c.195C>T	ENSP00000453082.2:p.Ile65=
ENST00000560424.2:c.510C>T	ENSP00000455540.2:p.Ile170=
ENST00000327367.9:c.510C>T MANE Select	ENSP00000332973.4:p.Ile170=
ENST00000679624.1:c.195C>T	ENSP00000505445.1:p.Ile65=
ENST00000681239.1:c.195C>T	ENSP00000505641.1:p.Ile65=
ENST00000327367.8:c.510C>T	ENSP00000332973.4:p.Ile170=
ENST00000439724.7:c.378C>T	ENSP00000401133.3:p.Ile126=
ENST00000540846.6:c.195C>T	ENSP00000437757.2:p.Ile65=
ENST00000558894.5:c.195C>T	ENSP00000458060.1:p.Ile65=
ENST00000559460.5:c.195C>T	ENSP00000453082.1:p.Ile65=
ENST00000559937.1:n.360C>T
ENST00000560175.5:c.195C>T	ENSP00000455095.1:p.Ile65=
NM_001145102.1:c.195C>T	NP_001138574.1:p.Ile65=
NM_001145103.1:c.378C>T	NP_001138575.1:p.Ile126=
NM_005902.3:c.510C>T	NP_005893.1:p.Ile170=
XM_011521559.1:c.400+274C>T	XP_011519861.1:n.400+274C>T
XM_011521560.1:c.363C>T	XP_011519862.1:p.Ile121=
XM_011521559.3:c.400+274C>T	XP_011519861.1:n.400+274C>T
NM_005902.4:c.510C>T MANE Select	NP_005893.1:p.Ile170=
NM_001145102.2:c.195C>T	NP_001138574.1:p.Ile65=
NM_001145103.2:c.378C>T	NP_001138575.1:p.Ile126=