Canonical Allele Identifier: CA490908980

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1782505
• ClinVar RCV Id: RCV002410538 ; RCV003533245
• dbSNP Id: rs1215864878
• gnomAD v2: 15-67073450-C-T
• gnomAD v3: 15-66781112-C-T
• gnomAD v4: 15-66781112-C-T
• MyVariant Identifiers: chr15:g.67073450C>T (hg19) ; chr15:g.66781112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781112C>T , CM000677.2:g.66781112C>T	GRCh38
NC_000015.9:g.67073450C>T , CM000677.1:g.67073450C>T	GRCh37
NC_000015.8:g.64860504C>T	NCBI36
NG_012244.1:g.83777C>T
NG_012244.2:g.83777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1068C>T MANE Select	ENSP00000288840.5:p.Ile356=
ENST00000288840.9:c.1068C>T	ENSP00000288840.5:p.Ile356=
ENST00000557916.5:c.1200C>T	ENSP00000452955.1:n.1200C>T
ENST00000559931.5:c.372C>T	ENSP00000453446.1:n.372C>T
NM_005585.4:c.1068C>T	NP_005576.3:p.Ile356=
NR_027654.1:n.2123C>T
XM_011521561.1:c.285C>T	XP_011519863.1:p.Ile95=
XR_931825.1:n.2467C>T
XM_011521561.2:c.285C>T	XP_011519863.1:p.Ile95=
NM_005585.5:c.1068C>T MANE Select	NP_005576.3:p.Ile356=
NR_027654.2:n.2223C>T