Canonical Allele Identifier: CA322624

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 213776
• ClinVar RCV Id: RCV000198134
• dbSNP Id: rs201263330
• MyVariant Identifiers: chr15:g.67482818G>C (hg19) ; chr15:g.67190480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67190480G>C , CM000677.2:g.67190480G>C	GRCh38
NC_000015.9:g.67482818G>C , CM000677.1:g.67482818G>C	GRCh37
NC_000015.8:g.65269872G>C	NCBI36
NG_011990.1:g.129624G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.637G>C	ENSP00000454165.2:p.Asp213His
ENST00000558739.2:c.907G>C	ENSP00000453684.2:p.Asp303His
ENST00000558827.2:c.637G>C	ENSP00000452767.2:p.Asp213His
ENST00000559460.6:c.907G>C	ENSP00000453082.2:p.Asp303His
ENST00000560424.2:c.1333G>C	ENSP00000455540.2:p.Asp445His
ENST00000327367.9:c.1222G>C MANE Select	ENSP00000332973.4:p.Asp408His
ENST00000679624.1:c.907G>C	ENSP00000505445.1:p.Asp303His
ENST00000680689.1:n.925G>C
ENST00000681239.1:c.907G>C	ENSP00000505641.1:p.Asp303His
ENST00000327367.8:c.1222G>C	ENSP00000332973.4:p.Asp408His
ENST00000439724.7:c.1090G>C	ENSP00000401133.3:p.Asp364His
ENST00000537194.6:c.637G>C	ENSP00000445348.2:p.Asp213His
ENST00000540846.6:c.907G>C	ENSP00000437757.2:p.Asp303His
ENST00000558763.1:n.916G>C
ENST00000560402.1:n.283-2393G>C
ENST00000560424.1:c.414G>C
NM_001145102.1:c.907G>C	NP_001138574.1:p.Asp303His
NM_001145103.1:c.1090G>C	NP_001138575.1:p.Asp364His
NM_001145104.1:c.637G>C	NP_001138576.1:p.Asp213His
NM_005902.3:c.1222G>C	NP_005893.1:p.Asp408His
XM_011521559.1:c.1090G>C	XP_011519861.1:p.Asp364His
XM_011521560.1:c.1075G>C	XP_011519862.1:p.Asp359His
XM_011521559.3:c.1090G>C	XP_011519861.1:p.Asp364His
NM_005902.4:c.1222G>C MANE Select	NP_005893.1:p.Asp408His
NM_001145102.2:c.907G>C	NP_001138574.1:p.Asp303His
NM_001145103.2:c.1090G>C	NP_001138575.1:p.Asp364His
NM_001145104.2:c.637G>C	NP_001138576.1:p.Asp213His