Canonical Allele Identifier: CA392948214
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174559
ClinVar RCV Id: RCV001751787 RCV001799781 RCV003533007
dbSNP Id: rs1409145798
gnomAD v2: 15-66995598-T-C
gnomAD v3: 15-66703260-T-C
gnomAD v4: 15-66703260-T-C
MyVariant Identifiers: chr15:g.66995598T>C (hg19) chr15:g.66703260T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703260T>C , CM000677.2:g.66703260T>C GRCh38
NC_000015.9:g.66995598T>C , CM000677.1:g.66995598T>C GRCh37
NC_000015.8:g.64782652T>C NCBI36
NG_012244.1:g.5925T>C
NG_012244.2:g.5925T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.2T>C MANE Select ENSP00000288840.5:p.Met1Thr
ENST00000288840.9:c.2T>C ENSP00000288840.5:p.Met1Thr
ENST00000557916.5:c.2T>C ENSP00000452955.1:p.Met1Thr
ENST00000612349.1:n.184T>C
NM_005585.4:c.2T>C NP_005576.3:p.Met1Thr
NR_027654.1:n.925T>C
XR_931825.1:n.1161T>C
XR_931826.1:n.1161T>C
XR_931827.1:n.1161T>C
XR_931827.2:n.1151T>C
NM_005585.5:c.2T>C MANE Select NP_005576.3:p.Met1Thr
NR_027654.2:n.1025T>C
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Search 100 bp 3'