Canonical Allele Identifier: CA392948215

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 471756
• ClinVar RCV Id: RCV001322811
• dbSNP Id: rs1409145798
• gnomAD v4: 15-66703260-T-G
• MyVariant Identifiers: chr15:g.66995598T>G (hg19) ; chr15:g.66703260T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703260T>G , CM000677.2:g.66703260T>G	GRCh38
NC_000015.9:g.66995598T>G , CM000677.1:g.66995598T>G	GRCh37
NC_000015.8:g.64782652T>G	NCBI36
NG_012244.1:g.5925T>G
NG_012244.2:g.5925T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.2T>G MANE Select	ENSP00000288840.5:p.Met1Arg
ENST00000288840.9:c.2T>G	ENSP00000288840.5:p.Met1Arg
ENST00000557916.5:c.2T>G	ENSP00000452955.1:p.Met1Arg
ENST00000612349.1:n.184T>G
NM_005585.4:c.2T>G	NP_005576.3:p.Met1Arg
NR_027654.1:n.925T>G
XR_931825.1:n.1161T>G
XR_931826.1:n.1161T>G
XR_931827.1:n.1161T>G
XR_931827.2:n.1151T>G
NM_005585.5:c.2T>G MANE Select	NP_005576.3:p.Met1Arg
NR_027654.2:n.1025T>G