Canonical Allele Identifier: CA16602418
Gene: SMO HGNC NCBI

Linked Data

ClinVar Variation Id: 375938
ClinVar RCV Id: RCV000431122 RCV000441195
dbSNP Id: rs17710891
gnomAD v4: 7-129209348-G-C
COSMIC: COSM34198
MyVariant Identifiers: chr7:g.128849189G>C (hg19) chr7:g.129209348G>C (hg38)
CIViC: CA16602418
PubMed: PMID:19726788 PMID:22679179 PMID:25759020
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129209348G>C , CM000669.2:g.129209348G>C GRCh38
NC_000007.13:g.128849189G>C , CM000669.1:g.128849189G>C GRCh37
NC_000007.12:g.128636425G>C NCBI36
NG_023340.1:g.25477G>C
NG_023340.2:g.25477G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249373.8:c.1417G>C MANE Select ENSP00000249373.3:p.Asp473His
ENST00000655644.1:c.*1221+497G>C ENSP00000499377.1:n.*1221+497G>C
ENST00000249373.7:c.1417G>C ENSP00000249373.3:p.Asp473His
ENST00000462420.2:c.437+497G>C
NM_005631.4:c.1417G>C NP_005622.1:p.Asp473His
XM_011516522.1:c.1027G>C XP_011514824.1:p.Asp343His
XM_024446891.1:c.1027G>C XP_024302659.1:p.Asp343His
NM_005631.5:c.1417G>C MANE Select NP_005622.1:p.Asp473His
Search 100 bp 5'
Search 100 bp 3'