Canonical Allele Identifier: CA281907
Gene: SMAD6 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.66781495G>T
GRCh37 chr15:g.67073833G>T
GRCh37 chr15:g.67073833_67073834delinsTC
Revel Score:
ENST00000288840 (MANE Select) 0.966
ENST00000338426 0.966
gnomAD v2:
15:67073833 G / T
gnomAD v3:
15:66781495 G / T
gnomAD v4:
chr15-66781495-G-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000030753
ClinVar Variation:
37111
dbSNP:
387907283
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781495G>T , CM000677.2:g.66781495G>T GRCh38
NC_000015.9:g.67073833G>T , CM000677.1:g.67073833G>T GRCh37
NC_000015.8:g.64860887G>T NCBI36
NG_012244.1:g.84160G>T
NG_012244.2:g.84160G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1451G>T MANE Select ENSP00000288840.5:p.Cys484Phe
ENST00000288840.9:c.1451G>T ENSP00000288840.5:p.Cys484Phe
NM_005585.4:c.1451G>T NP_005576.3:p.Cys484Phe
NR_027654.1:n.2506G>T
XM_011521561.1:c.668G>T XP_011519863.1:p.Cys223Phe
XM_011521561.2:c.668G>T XP_011519863.1:p.Cys223Phe
NM_005585.5:c.1451G>T MANE Select NP_005576.3:p.Cys484Phe
NR_027654.2:n.2606G>T
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