Canonical Allele Identifier: CA7626446

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 471750
• ClinVar RCV Id: RCV000559897 ; RCV002404515 ; RCV003960364
• dbSNP Id: rs753456441
• ExAC: 15:66995767 C / G
• gnomAD v2: 15-66995767-C-G
• gnomAD v3: 15-66703429-C-G
• gnomAD v4: 15-66703429-C-G
• MyVariant Identifiers: chr15:g.66995767C>G (hg19) ; chr15:g.66703429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703429C>G , CM000677.2:g.66703429C>G	GRCh38
NC_000015.9:g.66995767C>G , CM000677.1:g.66995767C>G	GRCh37
NC_000015.8:g.64782821C>G	NCBI36
NG_012244.1:g.6094C>G
NG_012244.2:g.6094C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.171C>G MANE Select	ENSP00000288840.5:p.Arg57=
ENST00000288840.9:c.171C>G	ENSP00000288840.5:p.Arg57=
ENST00000557916.5:c.171C>G	ENSP00000452955.1:p.Arg57=
ENST00000612349.1:n.353C>G
NM_005585.4:c.171C>G	NP_005576.3:p.Arg57=
NR_027654.1:n.1094C>G
XR_931825.1:n.1330C>G
XR_931826.1:n.1330C>G
XR_931827.1:n.1330C>G
XR_931827.2:n.1320C>G
NM_005585.5:c.171C>G MANE Select	NP_005576.3:p.Arg57=
NR_027654.2:n.1194C>G