Canonical Allele Identifier: CA490907687
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1101332
ClinVar RCV Id: RCV001424221
dbSNP Id: rs2140580360
gnomAD v4: 15-66703279-G-A
MyVariant Identifiers: chr15:g.66995617G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703279G>A , CM000677.2:g.66703279G>A GRCh38
NC_000015.9:g.66995617G>A , CM000677.1:g.66995617G>A GRCh37
NC_000015.8:g.64782671G>A NCBI36
NG_012244.1:g.5944G>A
NG_012244.2:g.5944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.21G>A MANE Select ENSP00000288840.5:p.Ser7=
ENST00000288840.9:c.21G>A ENSP00000288840.5:p.Ser7=
ENST00000557916.5:c.21G>A ENSP00000452955.1:p.Ser7=
ENST00000612349.1:n.203G>A
NM_005585.4:c.21G>A NP_005576.3:p.Ser7=
NR_027654.1:n.944G>A
XR_931825.1:n.1180G>A
XR_931826.1:n.1180G>A
XR_931827.1:n.1180G>A
XR_931827.2:n.1170G>A
NM_005585.5:c.21G>A MANE Select NP_005576.3:p.Ser7=
NR_027654.2:n.1044G>A
Search 100 bp 5'
Search 100 bp 3'