Canonical Allele Identifier: CA1344405665

Gene: CAV3

Linked Data

• dbSNP Id: rs1575477145

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745352A>T , CM000665.2:g.8745352A>T	GRCh38
NC_000003.11:g.8787038A>T , CM000665.1:g.8787038A>T	GRCh37
NC_000003.10:g.8762038A>T	NCBI36
NG_008797.2:g.16543A>T , LRG_329:g.16543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-174A>T MANE Select	ENSP00000341940.2:n.115-174A>T
ENST00000343849.2:c.115-174A>T	ENSP00000341940.2:n.115-174A>T
ENST00000397368.2:c.115-174A>T	ENSP00000380525.2:n.115-174A>T
ENST00000472766.1:n.155+11362A>T
NM_001234.4:c.115-174A>T	NP_001225.1:n.115-174A>T
NM_033337.2:c.115-174A>T , LRG_329t1:c.115-174A>T	NP_203123.1:n.115-174A>T
NM_001234.5:c.115-174A>T	NP_001225.1:n.115-174A>T
NM_033337.3:c.115-174A>T MANE Select	NP_203123.1:n.115-174A>T