Canonical Allele Identifier: CA2664271877
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745969-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745969G>A , CM000665.2:g.8745969G>A GRCh38
NC_000003.11:g.8787655G>A , CM000665.1:g.8787655G>A GRCh37
NC_000003.10:g.8762655G>A NCBI36
NG_008797.2:g.17160G>A , LRG_329:g.17160G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*102G>A MANE Select ENSP00000341940.2:n.*102G>A
ENST00000343849.2:c.*102G>A ENSP00000341940.2:n.*102G>A
ENST00000397368.2:c.*7-1G>A ENSP00000380525.2:n.*7-1G>A
ENST00000472766.1:n.155+11979G>A
NM_001234.4:c.*7-1G>A NP_001225.1:n.*7-1G>A
NM_033337.2:c.*102G>A , LRG_329t1:c.*102G>A NP_203123.1:n.*102G>A
NM_001234.5:c.*7-1G>A NP_001225.1:n.*7-1G>A
NM_033337.3:c.*102G>A MANE Select NP_203123.1:n.*102G>A