Canonical Allele Identifier: CA2577496521

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745898A>G , CM000665.2:g.8745898A>G	GRCh38
NC_000003.11:g.8787584A>G , CM000665.1:g.8787584A>G	GRCh37
NC_000003.10:g.8762584A>G	NCBI36
NG_008797.2:g.17089A>G , LRG_329:g.17089A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.*31A>G MANE Select	ENSP00000341940.2:n.*31A>G
ENST00000343849.2:c.*31A>G	ENSP00000341940.2:n.*31A>G
ENST00000397368.2:c.*6+25A>G	ENSP00000380525.2:n.*6+25A>G
ENST00000472766.1:n.155+11908A>G
NM_001234.4:c.*6+25A>G	NP_001225.1:n.*6+25A>G
NM_033337.2:c.*31A>G , LRG_329t1:c.*31A>G	NP_203123.1:n.*31A>G
NM_001234.5:c.*6+25A>G	NP_001225.1:n.*6+25A>G
NM_033337.3:c.*31A>G MANE Select	NP_203123.1:n.*31A>G