Canonical Allele Identifier: CA2664271803

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745894-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745894G>T , CM000665.2:g.8745894G>T	GRCh38
NC_000003.11:g.8787580G>T , CM000665.1:g.8787580G>T	GRCh37
NC_000003.10:g.8762580G>T	NCBI36
NG_008797.2:g.17085G>T , LRG_329:g.17085G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.*27G>T MANE Select	ENSP00000341940.2:n.*27G>T
ENST00000343849.2:c.*27G>T	ENSP00000341940.2:n.*27G>T
ENST00000397368.2:c.*6+21G>T	ENSP00000380525.2:n.*6+21G>T
ENST00000472766.1:n.155+11904G>T
NM_001234.4:c.*6+21G>T	NP_001225.1:n.*6+21G>T
NM_033337.2:c.*27G>T , LRG_329t1:c.*27G>T	NP_203123.1:n.*27G>T
NM_001234.5:c.*6+21G>T	NP_001225.1:n.*6+21G>T
NM_033337.3:c.*27G>T MANE Select	NP_203123.1:n.*27G>T