Canonical Allele Identifier: CA2664271860
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745943-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745943G>T , CM000665.2:g.8745943G>T GRCh38
NC_000003.11:g.8787629G>T , CM000665.1:g.8787629G>T GRCh37
NC_000003.10:g.8762629G>T NCBI36
NG_008797.2:g.17134G>T , LRG_329:g.17134G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*76G>T MANE Select ENSP00000341940.2:n.*76G>T
ENST00000343849.2:c.*76G>T ENSP00000341940.2:n.*76G>T
ENST00000397368.2:c.*7-27G>T ENSP00000380525.2:n.*7-27G>T
ENST00000472766.1:n.155+11953G>T
NM_001234.4:c.*7-27G>T NP_001225.1:n.*7-27G>T
NM_033337.2:c.*76G>T , LRG_329t1:c.*76G>T NP_203123.1:n.*76G>T
NM_001234.5:c.*7-27G>T NP_001225.1:n.*7-27G>T
NM_033337.3:c.*76G>T MANE Select NP_203123.1:n.*76G>T