Canonical Allele Identifier: CA062158
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 629399
ClinVar RCV Id: RCV000774105
dbSNP Id: rs201824839
ExAC: 15:67358528 G / A
gnomAD v2: 15-67358528-G-A
gnomAD v3: 15-67066190-G-A
gnomAD v4: 15-67066190-G-A
MyVariant Identifiers: chr15:g.67358528G>A (hg19) chr15:g.67066190G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066190G>A , CM000677.2:g.67066190G>A GRCh38
NC_000015.9:g.67358528G>A , CM000677.1:g.67358528G>A GRCh37
NC_000015.8:g.65145582G>A NCBI36
NG_011990.1:g.5334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2246G>A ENSP00000453082.2:n.-110+2246G>A
ENST00000560424.2:c.36G>A ENSP00000455540.2:p.Val12=
ENST00000327367.9:c.36G>A MANE Select ENSP00000332973.4:p.Val12=
ENST00000327367.8:c.36G>A ENSP00000332973.4:p.Val12=
ENST00000559460.5:c.-110+2246G>A ENSP00000453082.1:n.-110+2246G>A
NM_005902.3:c.36G>A NP_005893.1:p.Val12=
XM_011521559.1:c.36G>A XP_011519861.1:p.Val12=
XM_011521559.3:c.36G>A XP_011519861.1:p.Val12=
NM_005902.4:c.36G>A MANE Select NP_005893.1:p.Val12=
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