Canonical Allele Identifier: CA491015872
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2792607
ClinVar RCV Id: RCV003643275
dbSNP Id: rs1318391697
gnomAD v3: 15-67066346-C-T
gnomAD v4: 15-67066346-C-T
MyVariant Identifiers: chr15:g.67358684C>T (hg19) chr15:g.67066346C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066346C>T , CM000677.2:g.67066346C>T GRCh38
NC_000015.9:g.67358684C>T , CM000677.1:g.67358684C>T GRCh37
NC_000015.8:g.65145738C>T NCBI36
NG_011990.1:g.5490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2402C>T ENSP00000453082.2:n.-110+2402C>T
ENST00000560424.2:c.192C>T ENSP00000455540.2:p.Cys64=
ENST00000327367.9:c.192C>T MANE Select ENSP00000332973.4:p.Cys64=
ENST00000327367.8:c.192C>T ENSP00000332973.4:p.Cys64=
ENST00000559460.5:c.-110+2402C>T ENSP00000453082.1:n.-110+2402C>T
NM_005902.3:c.192C>T NP_005893.1:p.Cys64=
XM_011521559.1:c.192C>T XP_011519861.1:p.Cys64=
XM_011521559.3:c.192C>T XP_011519861.1:p.Cys64=
NM_005902.4:c.192C>T MANE Select NP_005893.1:p.Cys64=
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