Canonical Allele Identifier: CA490907710

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1740299
• ClinVar RCV Id: RCV002333718
• gnomAD v4: 15-66703301-C-A
• MyVariant Identifiers: chr15:g.66995639C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703301C>A , CM000677.2:g.66703301C>A	GRCh38
NC_000015.9:g.66995639C>A , CM000677.1:g.66995639C>A	GRCh37
NC_000015.8:g.64782693C>A	NCBI36
NG_012244.1:g.5966C>A
NG_012244.2:g.5966C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.43C>A MANE Select	ENSP00000288840.5:p.Arg15=
ENST00000288840.9:c.43C>A	ENSP00000288840.5:p.Arg15=
ENST00000557916.5:c.43C>A	ENSP00000452955.1:p.Arg15=
ENST00000612349.1:n.225C>A
NM_005585.4:c.43C>A	NP_005576.3:p.Arg15=
NR_027654.1:n.966C>A
XR_931825.1:n.1202C>A
XR_931826.1:n.1202C>A
XR_931827.1:n.1202C>A
XR_931827.2:n.1192C>A
NM_005585.5:c.43C>A MANE Select	NP_005576.3:p.Arg15=
NR_027654.2:n.1066C>A