Canonical Allele Identifier: CA281908
Gene: SMAD6 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.66781288C>T
GRCh37 chr15:g.67073626C>T
Revel Score:
ENST00000288840 (MANE Select) 0.938
ENST00000338426 0.938
gnomAD v3:
15:66781288 C / T
gnomAD v4:
chr15-66781288-C-T
Joint Max Group AF 0.00000805 (NFE)
Exomes Max Group AF 0.00000812 (NFE)
ClinVar RCV:
RCV000030754
RCV003329236
ClinVar Variation:
37112
dbSNP:
387907284
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781288C>T , CM000677.2:g.66781288C>T GRCh38
NC_000015.9:g.67073626C>T , CM000677.1:g.67073626C>T GRCh37
NC_000015.8:g.64860680C>T NCBI36
NG_012244.1:g.83953C>T
NG_012244.2:g.83953C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1244C>T MANE Select ENSP00000288840.5:p.Pro415Leu
ENST00000288840.9:c.1244C>T ENSP00000288840.5:p.Pro415Leu
ENST00000557916.5:c.1376C>T ENSP00000452955.1:n.1376C>T
ENST00000559931.5:c.548C>T ENSP00000453446.1:n.548C>T
NM_005585.4:c.1244C>T NP_005576.3:p.Pro415Leu
NR_027654.1:n.2299C>T
XM_011521561.1:c.461C>T XP_011519863.1:p.Pro154Leu
XR_931825.1:n.2643C>T
XM_011521561.2:c.461C>T XP_011519863.1:p.Pro154Leu
NM_005585.5:c.1244C>T MANE Select NP_005576.3:p.Pro415Leu
NR_027654.2:n.2399C>T
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