Canonical Allele Identifier: CA7626707
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174580
ClinVar RCV Id: RCV001799802
dbSNP Id: rs753110746
ExAC: 15:67073392 G / A
gnomAD v2: 15-67073392-G-A
gnomAD v4: 15-66781054-G-A
MyVariant Identifiers: chr15:g.67073392G>A (hg19) chr15:g.66781054G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781054G>A , CM000677.2:g.66781054G>A GRCh38
NC_000015.9:g.67073392G>A , CM000677.1:g.67073392G>A GRCh37
NC_000015.8:g.64860446G>A NCBI36
NG_012244.1:g.83719G>A
NG_012244.2:g.83719G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1010G>A MANE Select ENSP00000288840.5:p.Trp337Ter
ENST00000288840.9:c.1010G>A ENSP00000288840.5:p.Trp337Ter
ENST00000557916.5:c.1142G>A ENSP00000452955.1:n.1142G>A
ENST00000559931.5:c.314G>A ENSP00000453446.1:n.314G>A
NM_005585.4:c.1010G>A NP_005576.3:p.Trp337Ter
NR_027654.1:n.2065G>A
XM_011521561.1:c.227G>A XP_011519863.1:p.Trp76Ter
XR_931825.1:n.2409G>A
XM_011521561.2:c.227G>A XP_011519863.1:p.Trp76Ter
NM_005585.5:c.1010G>A MANE Select NP_005576.3:p.Trp337Ter
NR_027654.2:n.2165G>A
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