Canonical Allele Identifier: CA271682475
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2562569
ClinVar RCV Id: RCV003296562 RCV003533833
dbSNP Id: rs1055162146
gnomAD v3: 15-66703283-C-G
gnomAD v4: 15-66703283-C-G
MyVariant Identifiers: chr15:g.66995621C>G (hg19) chr15:g.66703283C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703283C>G , CM000677.2:g.66703283C>G GRCh38
NC_000015.9:g.66995621C>G , CM000677.1:g.66995621C>G GRCh37
NC_000015.8:g.64782675C>G NCBI36
NG_012244.1:g.5948C>G
NG_012244.2:g.5948C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.25C>G MANE Select ENSP00000288840.5:p.Leu9Val
ENST00000288840.9:c.25C>G ENSP00000288840.5:p.Leu9Val
ENST00000557916.5:c.25C>G ENSP00000452955.1:p.Leu9Val
ENST00000612349.1:n.207C>G
NM_005585.4:c.25C>G NP_005576.3:p.Leu9Val
NR_027654.1:n.948C>G
XR_931825.1:n.1184C>G
XR_931826.1:n.1184C>G
XR_931827.1:n.1184C>G
XR_931827.2:n.1174C>G
NM_005585.5:c.25C>G MANE Select NP_005576.3:p.Leu9Val
NR_027654.2:n.1048C>G
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