Canonical Allele Identifier: CA1344405900
Gene: CAV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745753C= , CM000665.2:g.8745753C= GRCh38
NC_000003.11:g.8787439C= , CM000665.1:g.8787439C= GRCh37
NC_000003.10:g.8762439C= NCBI36
NG_008797.2:g.16944C= , LRG_329:g.16944C=

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.342C= MANE Select ENSP00000341940.2:p.Ile114=
ENST00000343849.2:c.342C= ENSP00000341940.2:p.Ile114=
ENST00000397368.2:c.342C= ENSP00000380525.2:p.Ile114=
ENST00000472766.1:n.155+11763C=
NM_001234.4:c.342C= NP_001225.1:p.Ile114=
NM_033337.2:c.342C= , LRG_329t1:c.342C= NP_203123.1:p.Ile114=
NM_001234.5:c.342C= NP_001225.1:p.Ile114=
NM_033337.3:c.342C= MANE Select NP_203123.1:p.Ile114=