Canonical Allele Identifier: CA215204
Gene: CAV3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.8745548C>A
GRCh37 chr3:g.8787234C>A
Revel Score:
ENST00000343849 (MANE Select) 0.893
ENST00000397368 0.893
ClinVar RCV:
RCV000024424
ClinVar Variation:
31738
dbSNP:
116840773
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745548C>A , CM000665.2:g.8745548C>A GRCh38
NC_000003.11:g.8787234C>A , CM000665.1:g.8787234C>A GRCh37
NC_000003.10:g.8762234C>A NCBI36
NG_008797.2:g.16739C>A , LRG_329:g.16739C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.137C>A MANE Select ENSP00000341940.2:p.Ala46Glu
ENST00000343849.2:c.137C>A ENSP00000341940.2:p.Ala46Glu
ENST00000397368.2:c.137C>A ENSP00000380525.2:p.Ala46Glu
ENST00000472766.1:n.155+11558C>A
NM_001234.4:c.137C>A NP_001225.1:p.Ala46Glu
NM_033337.2:c.137C>A , LRG_329t1:c.137C>A NP_203123.1:p.Ala46Glu
NM_001234.5:c.137C>A NP_001225.1:p.Ala46Glu
NM_033337.3:c.137C>A MANE Select NP_203123.1:p.Ala46Glu
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