Canonical Allele Identifier: CA393201700

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 800823
• ClinVar RCV Id: RCV000985000
• dbSNP Id: rs1333091798
• gnomAD v2: 15-67073406-C-T
• gnomAD v3: 15-66781068-C-T
• gnomAD v4: 15-66781068-C-T
• MyVariant Identifiers: chr15:g.67073406C>T (hg19) ; chr15:g.66781068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781068C>T , CM000677.2:g.66781068C>T	GRCh38
NC_000015.9:g.67073406C>T , CM000677.1:g.67073406C>T	GRCh37
NC_000015.8:g.64860460C>T	NCBI36
NG_012244.1:g.83733C>T
NG_012244.2:g.83733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1024C>T MANE Select	ENSP00000288840.5:p.Arg342Cys
ENST00000288840.9:c.1024C>T	ENSP00000288840.5:p.Arg342Cys
ENST00000557916.5:c.1156C>T	ENSP00000452955.1:n.1156C>T
ENST00000559931.5:c.328C>T	ENSP00000453446.1:n.328C>T
NM_005585.4:c.1024C>T	NP_005576.3:p.Arg342Cys
NR_027654.1:n.2079C>T
XM_011521561.1:c.241C>T	XP_011519863.1:p.Arg81Cys
XR_931825.1:n.2423C>T
XM_011521561.2:c.241C>T	XP_011519863.1:p.Arg81Cys
NM_005585.5:c.1024C>T MANE Select	NP_005576.3:p.Arg342Cys
NR_027654.2:n.2179C>T