Canonical Allele Identifier: CA7626434

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1389430
• ClinVar RCV Id: RCV001897924
• dbSNP Id: rs769111756
• ExAC: 15:66995693 G / T
• gnomAD v2: 15-66995693-G-T
• gnomAD v3: 15-66703355-G-T
• gnomAD v4: 15-66703355-G-T
• MyVariant Identifiers: chr15:g.66995693G>T (hg19) ; chr15:g.66703355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703355G>T , CM000677.2:g.66703355G>T	GRCh38
NC_000015.9:g.66995693G>T , CM000677.1:g.66995693G>T	GRCh37
NC_000015.8:g.64782747G>T	NCBI36
NG_012244.1:g.6020G>T
NG_012244.2:g.6020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.97G>T MANE Select	ENSP00000288840.5:p.Gly33Cys
ENST00000288840.9:c.97G>T	ENSP00000288840.5:p.Gly33Cys
ENST00000557916.5:c.97G>T	ENSP00000452955.1:p.Gly33Cys
ENST00000612349.1:n.279G>T
NM_005585.4:c.97G>T	NP_005576.3:p.Gly33Cys
NR_027654.1:n.1020G>T
XR_931825.1:n.1256G>T
XR_931826.1:n.1256G>T
XR_931827.1:n.1256G>T
XR_931827.2:n.1246G>T
NM_005585.5:c.97G>T MANE Select	NP_005576.3:p.Gly33Cys
NR_027654.2:n.1120G>T