Canonical Allele Identifier: CA647438344
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745458C>T , CM000665.2:g.8745458C>T GRCh38
NC_000003.11:g.8787144C>T , CM000665.1:g.8787144C>T GRCh37
NC_000003.10:g.8762144C>T NCBI36
NG_008797.2:g.16649C>T , LRG_329:g.16649C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-68C>T MANE Select ENSP00000341940.2:n.115-68C>T
ENST00000343849.2:c.115-68C>T ENSP00000341940.2:n.115-68C>T
ENST00000397368.2:c.115-68C>T ENSP00000380525.2:n.115-68C>T
ENST00000472766.1:n.155+11468C>T
NM_001234.4:c.115-68C>T NP_001225.1:n.115-68C>T
NM_033337.2:c.115-68C>T , LRG_329t1:c.115-68C>T NP_203123.1:n.115-68C>T
NM_001234.5:c.115-68C>T NP_001225.1:n.115-68C>T
NM_033337.3:c.115-68C>T MANE Select NP_203123.1:n.115-68C>T