Canonical Allele Identifier: CA911564941
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1326579406
gnomAD v4: 3-8745935-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745935T>C , CM000665.2:g.8745935T>C GRCh38
NC_000003.11:g.8787621T>C , CM000665.1:g.8787621T>C GRCh37
NC_000003.10:g.8762621T>C NCBI36
NG_008797.2:g.17126T>C , LRG_329:g.17126T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*68T>C MANE Select ENSP00000341940.2:n.*68T>C
ENST00000343849.2:c.*68T>C ENSP00000341940.2:n.*68T>C
ENST00000397368.2:c.*7-35T>C ENSP00000380525.2:n.*7-35T>C
ENST00000472766.1:n.155+11945T>C
NM_001234.4:c.*7-35T>C NP_001225.1:n.*7-35T>C
NM_033337.2:c.*68T>C , LRG_329t1:c.*68T>C NP_203123.1:n.*68T>C
NM_001234.5:c.*7-35T>C NP_001225.1:n.*7-35T>C
NM_033337.3:c.*68T>C MANE Select NP_203123.1:n.*68T>C