Canonical Allele Identifier: CA2664271848

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745930-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745930A>G , CM000665.2:g.8745930A>G	GRCh38
NC_000003.11:g.8787616A>G , CM000665.1:g.8787616A>G	GRCh37
NC_000003.10:g.8762616A>G	NCBI36
NG_008797.2:g.17121A>G , LRG_329:g.17121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*63A>G MANE Select	ENSP00000341940.2:n.*63A>G
ENST00000343849.2:c.*63A>G	ENSP00000341940.2:n.*63A>G
ENST00000397368.2:c.*7-40A>G	ENSP00000380525.2:n.*7-40A>G
ENST00000472766.1:n.155+11940A>G
NM_001234.4:c.*7-40A>G	NP_001225.1:n.*7-40A>G
NM_033337.2:c.*63A>G , LRG_329t1:c.*63A>G	NP_203123.1:n.*63A>G
NM_001234.5:c.*7-40A>G	NP_001225.1:n.*7-40A>G
NM_033337.3:c.*63A>G MANE Select	NP_203123.1:n.*63A>G