Canonical Allele Identifier: CA351663147
Gene: CAV3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.8745542T>C
GRCh37 chr3:g.8787228T>C
Revel Score:
ENST00000343849 (MANE Select) 0.920
ENST00000397368 0.920
ClinVar RCV:
RCV001071606
ClinVar Variation:
864417
dbSNP:
116840788
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745542T>C , CM000665.2:g.8745542T>C GRCh38
NC_000003.11:g.8787228T>C , CM000665.1:g.8787228T>C GRCh37
NC_000003.10:g.8762228T>C NCBI36
NG_008797.2:g.16733T>C , LRG_329:g.16733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.131T>C MANE Select ENSP00000341940.2:p.Val44Ala
ENST00000343849.2:c.131T>C ENSP00000341940.2:p.Val44Ala
ENST00000397368.2:c.131T>C ENSP00000380525.2:p.Val44Ala
ENST00000472766.1:n.155+11552T>C
NM_001234.4:c.131T>C NP_001225.1:p.Val44Ala
NM_033337.2:c.131T>C , LRG_329t1:c.131T>C NP_203123.1:p.Val44Ala
NM_001234.5:c.131T>C NP_001225.1:p.Val44Ala
NM_033337.3:c.131T>C MANE Select NP_203123.1:p.Val44Ala
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