Canonical Allele Identifier: CA2664271275

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745417-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745417C>T , CM000665.2:g.8745417C>T	GRCh38
NC_000003.11:g.8787103C>T , CM000665.1:g.8787103C>T	GRCh37
NC_000003.10:g.8762103C>T	NCBI36
NG_008797.2:g.16608C>T , LRG_329:g.16608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-109C>T MANE Select	ENSP00000341940.2:n.115-109C>T
ENST00000343849.2:c.115-109C>T	ENSP00000341940.2:n.115-109C>T
ENST00000397368.2:c.115-109C>T	ENSP00000380525.2:n.115-109C>T
ENST00000472766.1:n.155+11427C>T
NM_001234.4:c.115-109C>T	NP_001225.1:n.115-109C>T
NM_033337.2:c.115-109C>T , LRG_329t1:c.115-109C>T	NP_203123.1:n.115-109C>T
NM_001234.5:c.115-109C>T	NP_001225.1:n.115-109C>T
NM_033337.3:c.115-109C>T MANE Select	NP_203123.1:n.115-109C>T