Canonical Allele Identifier: CA10584652
Gene: SMO HGNC NCBI

Linked Data

ClinVar Variation Id: 245609
ClinVar RCV Id: RCV000236033
dbSNP Id: rs879255280
COSMIC: COSM216037
MyVariant Identifiers: chr7:g.128846398C>T (hg19) chr7:g.129206557C>T (hg38)
PubMed: PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:27236920
CIViC: CA10584652
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129206557C>T , CM000669.2:g.129206557C>T GRCh38
NC_000007.13:g.128846398C>T , CM000669.1:g.128846398C>T GRCh37
NC_000007.12:g.128633634C>T NCBI36
NG_023340.1:g.22686C>T
NG_023340.2:g.22686C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000249373.8:c.1234C>T MANE Select ENSP00000249373.3:p.Leu412Phe
ENST00000655644.1:c.*1098C>T ENSP00000499377.1:n.*1098C>T
ENST00000249373.7:c.1234C>T ENSP00000249373.3:p.Leu412Phe
ENST00000462420.2:c.314C>T
ENST00000495998.1:n.179C>T
NM_005631.4:c.1234C>T NP_005622.1:p.Leu412Phe
XM_011516522.1:c.844C>T XP_011514824.1:p.Leu282Phe
XM_024446891.1:c.844C>T XP_024302659.1:p.Leu282Phe
NM_005631.5:c.1234C>T MANE Select NP_005622.1:p.Leu412Phe
Search 100 bp 5'
Search 100 bp 3'