Canonical Allele Identifier: CA392956040

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1714211
• ClinVar RCV Id: RCV002297188
• gnomAD v4: 15-67181303-A-C
• MyVariant Identifiers: chr15:g.67473641A>C (hg19) ; chr15:g.67181303A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181303A>C , CM000677.2:g.67181303A>C	GRCh38
NC_000015.9:g.67473641A>C , CM000677.1:g.67473641A>C	GRCh37
NC_000015.8:g.65260695A>C	NCBI36
NG_011990.1:g.120447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.136A>C	ENSP00000454165.2:p.Asn46His
ENST00000558739.2:c.406A>C	ENSP00000453684.2:p.Asn136His
ENST00000558827.2:c.136A>C	ENSP00000452767.2:p.Asn46His
ENST00000559460.6:c.406A>C	ENSP00000453082.2:p.Asn136His
ENST00000560424.2:c.721A>C	ENSP00000455540.2:p.Asn241His
ENST00000327367.9:c.721A>C MANE Select	ENSP00000332973.4:p.Asn241His
ENST00000679624.1:c.406A>C	ENSP00000505445.1:p.Asn136His
ENST00000680689.1:n.424A>C
ENST00000681239.1:c.406A>C	ENSP00000505641.1:p.Asn136His
ENST00000327367.8:c.721A>C	ENSP00000332973.4:p.Asn241His
ENST00000439724.7:c.589A>C	ENSP00000401133.3:p.Asn197His
ENST00000537194.6:c.136A>C	ENSP00000445348.2:p.Asn46His
ENST00000540846.6:c.406A>C	ENSP00000437757.2:p.Asn136His
ENST00000558428.5:c.136A>C	ENSP00000454165.1:p.Asn46His
ENST00000558827.1:c.136A>C	ENSP00000452767.1:p.Asn46His
ENST00000558894.5:c.406A>C	ENSP00000458060.1:p.Asn136His
ENST00000560402.1:n.282+6719A>C
NM_001145102.1:c.406A>C	NP_001138574.1:p.Asn136His
NM_001145103.1:c.589A>C	NP_001138575.1:p.Asn197His
NM_001145104.1:c.136A>C	NP_001138576.1:p.Asn46His
NM_005902.3:c.721A>C	NP_005893.1:p.Asn241His
XM_011521559.1:c.589A>C	XP_011519861.1:p.Asn197His
XM_011521560.1:c.574A>C	XP_011519862.1:p.Asn192His
XM_011521559.3:c.589A>C	XP_011519861.1:p.Asn197His
NM_005902.4:c.721A>C MANE Select	NP_005893.1:p.Asn241His
NM_001145102.2:c.406A>C	NP_001138574.1:p.Asn136His
NM_001145103.2:c.589A>C	NP_001138575.1:p.Asn197His
NM_001145104.2:c.136A>C	NP_001138576.1:p.Asn46His