Canonical Allele Identifier: CA392954273

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 925560
• ClinVar RCV Id: RCV001187540 ; RCV001557706 ; RCV004008713
• dbSNP Id: rs1253901433
• gnomAD v2: 15-67457614-C-T
• gnomAD v4: 15-67165276-C-T
• MyVariant Identifiers: chr15:g.67457614C>T (hg19) ; chr15:g.67165276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165276C>T , CM000677.2:g.67165276C>T	GRCh38
NC_000015.9:g.67457614C>T , CM000677.1:g.67457614C>T	GRCh37
NC_000015.8:g.65244668C>T	NCBI36
NG_011990.1:g.104420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.109C>T	ENSP00000453684.2:p.Arg37Cys
ENST00000559460.6:c.109C>T	ENSP00000453082.2:p.Arg37Cys
ENST00000560424.2:c.424C>T	ENSP00000455540.2:p.Arg142Cys
ENST00000327367.9:c.424C>T MANE Select	ENSP00000332973.4:p.Arg142Cys
ENST00000679624.1:c.109C>T	ENSP00000505445.1:p.Arg37Cys
ENST00000681239.1:c.109C>T	ENSP00000505641.1:p.Arg37Cys
ENST00000327367.8:c.424C>T	ENSP00000332973.4:p.Arg142Cys
ENST00000439724.7:c.292C>T	ENSP00000401133.3:p.Arg98Cys
ENST00000540846.6:c.109C>T	ENSP00000437757.2:p.Arg37Cys
ENST00000558739.1:c.109C>T	ENSP00000453684.1:p.Arg37Cys
ENST00000558894.5:c.109C>T	ENSP00000458060.1:p.Arg37Cys
ENST00000559460.5:c.109C>T	ENSP00000453082.1:p.Arg37Cys
ENST00000559937.1:n.274C>T
ENST00000560175.5:c.109C>T	ENSP00000455095.1:p.Arg37Cys
NM_001145102.1:c.109C>T	NP_001138574.1:p.Arg37Cys
NM_001145103.1:c.292C>T	NP_001138575.1:p.Arg98Cys
NM_005902.3:c.424C>T	NP_005893.1:p.Arg142Cys
XM_011521559.1:c.400+188C>T	XP_011519861.1:n.400+188C>T
XM_011521560.1:c.277C>T	XP_011519862.1:p.Arg93Cys
XM_011521559.3:c.400+188C>T	XP_011519861.1:n.400+188C>T
NM_005902.4:c.424C>T MANE Select	NP_005893.1:p.Arg142Cys
NM_001145102.2:c.109C>T	NP_001138574.1:p.Arg37Cys
NM_001145103.2:c.292C>T	NP_001138575.1:p.Arg98Cys