Canonical Allele Identifier: CA2664271820
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745908-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745908G>T , CM000665.2:g.8745908G>T GRCh38
NC_000003.11:g.8787594G>T , CM000665.1:g.8787594G>T GRCh37
NC_000003.10:g.8762594G>T NCBI36
NG_008797.2:g.17099G>T , LRG_329:g.17099G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*41G>T MANE Select ENSP00000341940.2:n.*41G>T
ENST00000343849.2:c.*41G>T ENSP00000341940.2:n.*41G>T
ENST00000397368.2:c.*6+35G>T ENSP00000380525.2:n.*6+35G>T
ENST00000472766.1:n.155+11918G>T
NM_001234.4:c.*6+35G>T NP_001225.1:n.*6+35G>T
NM_033337.2:c.*41G>T , LRG_329t1:c.*41G>T NP_203123.1:n.*41G>T
NM_001234.5:c.*6+35G>T NP_001225.1:n.*6+35G>T
NM_033337.3:c.*41G>T MANE Select NP_203123.1:n.*41G>T