Canonical Allele Identifier: CA10617543
Gene: CAV3 HGNC NCBI
COSMIC:
COSN9004561
COSN26029544 (not active)
MyVariant.info:
GRCh38 chr3:g.8746144G>A
GRCh37 chr3:g.8787830G>A
gnomAD v2:
3:8787830 G / A
gnomAD v3:
3:8746144 G / A
gnomAD v4:
chr3-8746144-G-A
Joint Max Group AF 0.0061201 (EAS)
Genomes Max Group AF 0.00288218 (EAS)
Exomes Max Group AF 0.00666393 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746144G>A , CM000665.2:g.8746144G>A GRCh38
NC_000003.11:g.8787830G>A , CM000665.1:g.8787830G>A GRCh37
NC_000003.10:g.8762830G>A NCBI36
NG_008797.2:g.17335G>A , LRG_329:g.17335G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*277G>A MANE Select ENSP00000341940.2:n.*277G>A
ENST00000343849.2:c.*277G>A ENSP00000341940.2:n.*277G>A
ENST00000397368.2:c.*181G>A ENSP00000380525.2:n.*181G>A
ENST00000472766.1:n.155+12154G>A
NM_001234.4:c.*181G>A NP_001225.1:n.*181G>A
NM_033337.2:c.*277G>A , LRG_329t1:c.*277G>A NP_203123.1:n.*277G>A
NM_001234.5:c.*181G>A NP_001225.1:n.*181G>A
NM_033337.3:c.*277G>A MANE Select NP_203123.1:n.*277G>A
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