Canonical Allele Identifier: CA7626430
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 699436
ClinVar RCV Id: RCV000867252 RCV002372434 RCV003323748
dbSNP Id: rs780659575
ExAC: 15:66995689 T / C
gnomAD v2: 15-66995689-T-C
gnomAD v3: 15-66703351-T-C
gnomAD v4: 15-66703351-T-C
MyVariant Identifiers: chr15:g.66995689T>C (hg19) chr15:g.66703351T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703351T>C , CM000677.2:g.66703351T>C GRCh38
NC_000015.9:g.66995689T>C , CM000677.1:g.66995689T>C GRCh37
NC_000015.8:g.64782743T>C NCBI36
NG_012244.1:g.6016T>C
NG_012244.2:g.6016T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.93T>C MANE Select ENSP00000288840.5:p.Gly31=
ENST00000288840.9:c.93T>C ENSP00000288840.5:p.Gly31=
ENST00000557916.5:c.93T>C ENSP00000452955.1:p.Gly31=
ENST00000612349.1:n.275T>C
NM_005585.4:c.93T>C NP_005576.3:p.Gly31=
NR_027654.1:n.1016T>C
XR_931825.1:n.1252T>C
XR_931826.1:n.1252T>C
XR_931827.1:n.1252T>C
XR_931827.2:n.1242T>C
NM_005585.5:c.93T>C MANE Select NP_005576.3:p.Gly31=
NR_027654.2:n.1116T>C
Search 100 bp 5'
Search 100 bp 3'