Canonical Allele Identifier: CA062600

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 413482
• ClinVar RCV Id: RCV003932725
• dbSNP Id: rs149443777
• ExAC: 15:67473634 C / T
• gnomAD v2: 15-67473634-C-T
• gnomAD v3: 15-67181296-C-T
• gnomAD v4: 15-67181296-C-T
• MyVariant Identifiers: chr15:g.67473634C>T (hg19) ; chr15:g.67181296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181296C>T , CM000677.2:g.67181296C>T	GRCh38
NC_000015.9:g.67473634C>T , CM000677.1:g.67473634C>T	GRCh37
NC_000015.8:g.65260688C>T	NCBI36
NG_011990.1:g.120440C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.129C>T	ENSP00000454165.2:p.Tyr43=
ENST00000558739.2:c.399C>T	ENSP00000453684.2:p.Tyr133=
ENST00000558827.2:c.129C>T	ENSP00000452767.2:p.Tyr43=
ENST00000559460.6:c.399C>T	ENSP00000453082.2:p.Tyr133=
ENST00000560424.2:c.714C>T	ENSP00000455540.2:p.Tyr238=
ENST00000327367.9:c.714C>T MANE Select	ENSP00000332973.4:p.Tyr238=
ENST00000679624.1:c.399C>T	ENSP00000505445.1:p.Tyr133=
ENST00000680689.1:n.417C>T
ENST00000681239.1:c.399C>T	ENSP00000505641.1:p.Tyr133=
ENST00000327367.8:c.714C>T	ENSP00000332973.4:p.Tyr238=
ENST00000439724.7:c.582C>T	ENSP00000401133.3:p.Tyr194=
ENST00000537194.6:c.129C>T	ENSP00000445348.2:p.Tyr43=
ENST00000540846.6:c.399C>T	ENSP00000437757.2:p.Tyr133=
ENST00000558428.5:c.129C>T	ENSP00000454165.1:p.Tyr43=
ENST00000558827.1:c.129C>T	ENSP00000452767.1:p.Tyr43=
ENST00000558894.5:c.399C>T	ENSP00000458060.1:p.Tyr133=
ENST00000560402.1:n.282+6712C>T
NM_001145102.1:c.399C>T	NP_001138574.1:p.Tyr133=
NM_001145103.1:c.582C>T	NP_001138575.1:p.Tyr194=
NM_001145104.1:c.129C>T	NP_001138576.1:p.Tyr43=
NM_005902.3:c.714C>T	NP_005893.1:p.Tyr238=
XM_011521559.1:c.582C>T	XP_011519861.1:p.Tyr194=
XM_011521560.1:c.567C>T	XP_011519862.1:p.Tyr189=
XM_011521559.3:c.582C>T	XP_011519861.1:p.Tyr194=
NM_005902.4:c.714C>T MANE Select	NP_005893.1:p.Tyr238=
NM_001145102.2:c.399C>T	NP_001138574.1:p.Tyr133=
NM_001145103.2:c.582C>T	NP_001138575.1:p.Tyr194=
NM_001145104.2:c.129C>T	NP_001138576.1:p.Tyr43=