Canonical Allele Identifier: CA061777
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 373708
ClinVar RCV Id: RCV000414061 RCV001187660 RCV003995924
dbSNP Id: rs745387614
ExAC: 15:67358667 A / G
gnomAD v2: 15-67358667-A-G
gnomAD v4: 15-67066329-A-G
MyVariant Identifiers: chr15:g.67358667A>G (hg19) chr15:g.67066329A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066329A>G , CM000677.2:g.67066329A>G GRCh38
NC_000015.9:g.67358667A>G , CM000677.1:g.67358667A>G GRCh37
NC_000015.8:g.65145721A>G NCBI36
NG_011990.1:g.5473A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2385A>G ENSP00000453082.2:n.-110+2385A>G
ENST00000560424.2:c.175A>G ENSP00000455540.2:p.Asn59Asp
ENST00000327367.9:c.175A>G MANE Select ENSP00000332973.4:p.Asn59Asp
ENST00000327367.8:c.175A>G ENSP00000332973.4:p.Asn59Asp
ENST00000559460.5:c.-110+2385A>G ENSP00000453082.1:n.-110+2385A>G
NM_005902.3:c.175A>G NP_005893.1:p.Asn59Asp
XM_011521559.1:c.175A>G XP_011519861.1:p.Asn59Asp
XM_011521559.3:c.175A>G XP_011519861.1:p.Asn59Asp
NM_005902.4:c.175A>G MANE Select NP_005893.1:p.Asn59Asp
Search 100 bp 5'
Search 100 bp 3'