Canonical Allele Identifier: CA2755144122

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745889T>C , CM000665.2:g.8745889T>C	GRCh38
NC_000003.11:g.8787575T>C , CM000665.1:g.8787575T>C	GRCh37
NC_000003.10:g.8762575T>C	NCBI36
NG_008797.2:g.17080T>C , LRG_329:g.17080T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.*22T>C MANE Select	ENSP00000341940.2:n.*22T>C
ENST00000343849.2:c.*22T>C	ENSP00000341940.2:n.*22T>C
ENST00000397368.2:c.*6+16T>C	ENSP00000380525.2:n.*6+16T>C
ENST00000472766.1:n.155+11899T>C
NM_001234.4:c.*6+16T>C	NP_001225.1:n.*6+16T>C
NM_033337.2:c.*22T>C , LRG_329t1:c.*22T>C	NP_203123.1:n.*22T>C
NM_001234.5:c.*6+16T>C	NP_001225.1:n.*6+16T>C
NM_033337.3:c.*22T>C MANE Select	NP_203123.1:n.*22T>C