Canonical Allele Identifier: CA392948324
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404142
ClinVar RCV Id: RCV001901496 RCV003329420
dbSNP Id: rs1241989233
gnomAD v2: 15-66995630-C-T
gnomAD v3: 15-66703292-C-T
gnomAD v4: 15-66703292-C-T
MyVariant Identifiers: chr15:g.66995630C>T (hg19) chr15:g.66703292C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703292C>T , CM000677.2:g.66703292C>T GRCh38
NC_000015.9:g.66995630C>T , CM000677.1:g.66995630C>T GRCh37
NC_000015.8:g.64782684C>T NCBI36
NG_012244.1:g.5957C>T
NG_012244.2:g.5957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.34C>T MANE Select ENSP00000288840.5:p.Arg12Ter
ENST00000288840.9:c.34C>T ENSP00000288840.5:p.Arg12Ter
ENST00000557916.5:c.34C>T ENSP00000452955.1:p.Arg12Ter
ENST00000612349.1:n.216C>T
NM_005585.4:c.34C>T NP_005576.3:p.Arg12Ter
NR_027654.1:n.957C>T
XR_931825.1:n.1193C>T
XR_931826.1:n.1193C>T
XR_931827.1:n.1193C>T
XR_931827.2:n.1183C>T
NM_005585.5:c.34C>T MANE Select NP_005576.3:p.Arg12Ter
NR_027654.2:n.1057C>T
Search 100 bp 5'
Search 100 bp 3'