Canonical Allele Identifier: CA1344405984
Gene: CAV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745916C= , CM000665.2:g.8745916C= GRCh38
NC_000003.11:g.8787602C= , CM000665.1:g.8787602C= GRCh37
NC_000003.10:g.8762602C= NCBI36
NG_008797.2:g.17107C= , LRG_329:g.17107C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*49C= MANE Select ENSP00000341940.2:n.*49C=
ENST00000343849.2:c.*49C= ENSP00000341940.2:n.*49C=
ENST00000397368.2:c.*6+43C= ENSP00000380525.2:n.*6+43C=
ENST00000472766.1:n.155+11926C=
NM_001234.4:c.*6+43C= NP_001225.1:n.*6+43C=
NM_033337.2:c.*49C= , LRG_329t1:c.*49C= NP_203123.1:n.*49C=
NM_001234.5:c.*6+43C= NP_001225.1:n.*6+43C=
NM_033337.3:c.*49C= MANE Select NP_203123.1:n.*49C=