Canonical Allele Identifier: CA2838243508

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745884A>C , CM000665.2:g.8745884A>C	GRCh38
NC_000003.11:g.8787570A>C , CM000665.1:g.8787570A>C	GRCh37
NC_000003.10:g.8762570A>C	NCBI36
NG_008797.2:g.17075A>C , LRG_329:g.17075A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*17A>C MANE Select	ENSP00000341940.2:n.*17A>C
ENST00000343849.2:c.*17A>C	ENSP00000341940.2:n.*17A>C
ENST00000397368.2:c.*6+11A>C	ENSP00000380525.2:n.*6+11A>C
ENST00000472766.1:n.155+11894A>C
NM_001234.4:c.*6+11A>C	NP_001225.1:n.*6+11A>C
NM_033337.2:c.*17A>C , LRG_329t1:c.*17A>C	NP_203123.1:n.*17A>C
NM_001234.5:c.*6+11A>C	NP_001225.1:n.*6+11A>C
NM_033337.3:c.*17A>C MANE Select	NP_203123.1:n.*17A>C