Canonical Allele Identifier: CA392948397
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2968634
ClinVar RCV Id: RCV003829280
dbSNP Id: rs1210695230
gnomAD v3: 15-66703313-G-T
gnomAD v4: 15-66703313-G-T
MyVariant Identifiers: chr15:g.66995651G>T (hg19) chr15:g.66703313G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703313G>T , CM000677.2:g.66703313G>T GRCh38
NC_000015.9:g.66995651G>T , CM000677.1:g.66995651G>T GRCh37
NC_000015.8:g.64782705G>T NCBI36
NG_012244.1:g.5978G>T
NG_012244.2:g.5978G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.55G>T MANE Select ENSP00000288840.5:p.Val19Phe
ENST00000288840.9:c.55G>T ENSP00000288840.5:p.Val19Phe
ENST00000557916.5:c.55G>T ENSP00000452955.1:p.Val19Phe
ENST00000612349.1:n.237G>T
NM_005585.4:c.55G>T NP_005576.3:p.Val19Phe
NR_027654.1:n.978G>T
XR_931825.1:n.1214G>T
XR_931826.1:n.1214G>T
XR_931827.1:n.1214G>T
XR_931827.2:n.1204G>T
NM_005585.5:c.55G>T MANE Select NP_005576.3:p.Val19Phe
NR_027654.2:n.1078G>T
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