Canonical Allele Identifier: CA351663104
Gene: CAV3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745524A>G , CM000665.2:g.8745524A>G GRCh38
NC_000003.11:g.8787210A>G , CM000665.1:g.8787210A>G GRCh37
NC_000003.10:g.8762210A>G NCBI36
NG_008797.2:g.16715A>G , LRG_329:g.16715A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-2A>G MANE Select ENSP00000341940.2:n.115-2A>G
ENST00000343849.2:c.115-2A>G ENSP00000341940.2:n.115-2A>G
ENST00000397368.2:c.115-2A>G ENSP00000380525.2:n.115-2A>G
ENST00000472766.1:n.155+11534A>G
NM_001234.4:c.115-2A>G NP_001225.1:n.115-2A>G
NM_033337.2:c.115-2A>G , LRG_329t1:c.115-2A>G NP_203123.1:n.115-2A>G
NM_001234.5:c.115-2A>G NP_001225.1:n.115-2A>G
NM_033337.3:c.115-2A>G MANE Select NP_203123.1:n.115-2A>G