Canonical Allele Identifier: CA7626441

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 240175
• ClinVar RCV Id: RCV000227243 ; RCV002354659 ; RCV003323468 ; RCV003947784
• dbSNP Id: rs149612008
• ExAC: 15:66995716 C / A
• gnomAD v2: 15-66995716-C-A
• gnomAD v3: 15-66703378-C-A
• gnomAD v4: 15-66703378-C-A
• MyVariant Identifiers: chr15:g.66995716C>A (hg19) ; chr15:g.66703378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703378C>A , CM000677.2:g.66703378C>A	GRCh38
NC_000015.9:g.66995716C>A , CM000677.1:g.66995716C>A	GRCh37
NC_000015.8:g.64782770C>A	NCBI36
NG_012244.1:g.6043C>A
NG_012244.2:g.6043C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.120C>A MANE Select	ENSP00000288840.5:p.Gly40=
ENST00000288840.9:c.120C>A	ENSP00000288840.5:p.Gly40=
ENST00000557916.5:c.120C>A	ENSP00000452955.1:p.Gly40=
ENST00000612349.1:n.302C>A
NM_005585.4:c.120C>A	NP_005576.3:p.Gly40=
NR_027654.1:n.1043C>A
XR_931825.1:n.1279C>A
XR_931826.1:n.1279C>A
XR_931827.1:n.1279C>A
XR_931827.2:n.1269C>A
NM_005585.5:c.120C>A MANE Select	NP_005576.3:p.Gly40=
NR_027654.2:n.1143C>A