Canonical Allele Identifier: CA119304
Gene: SMO HGNC NCBI

Linked Data

ClinVar Variation Id: 8118
ClinVar RCV Id: RCV000008587
dbSNP Id: rs121918348
ExAC: 7:128850838 G / A
gnomAD v2: 7-128850838-G-A
gnomAD v3: 7-129210997-G-A
gnomAD v4: 7-129210997-G-A
COSMIC: COSM13152
MyVariant Identifiers: chr7:g.128850838G>A (hg19) chr7:g.129210997G>A (hg38)
PubMed: PMID:9422511
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210997G>A , CM000669.2:g.129210997G>A GRCh38
NC_000007.13:g.128850838G>A , CM000669.1:g.128850838G>A GRCh37
NC_000007.12:g.128638074G>A NCBI36
NG_023340.1:g.27126G>A
NG_023340.2:g.27126G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249373.8:c.1685G>A MANE Select ENSP00000249373.3:p.Arg562Gln
ENST00000655644.1:c.*1440G>A ENSP00000499377.1:n.*1440G>A
ENST00000249373.7:c.1685G>A ENSP00000249373.3:p.Arg562Gln
ENST00000462420.2:c.656G>A
ENST00000475779.1:c.74G>A ENSP00000420749.1:p.Arg25Gln
NM_005631.4:c.1685G>A NP_005622.1:p.Arg562Gln
XM_011516522.1:c.1295G>A XP_011514824.1:p.Arg432Gln
XM_024446891.1:c.1295G>A XP_024302659.1:p.Arg432Gln
NM_005631.5:c.1685G>A MANE Select NP_005622.1:p.Arg562Gln
Search 100 bp 5'
Search 100 bp 3'