Canonical Allele Identifier: CA2664271855

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745939-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745939C>T , CM000665.2:g.8745939C>T	GRCh38
NC_000003.11:g.8787625C>T , CM000665.1:g.8787625C>T	GRCh37
NC_000003.10:g.8762625C>T	NCBI36
NG_008797.2:g.17130C>T , LRG_329:g.17130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*72C>T MANE Select	ENSP00000341940.2:n.*72C>T
ENST00000343849.2:c.*72C>T	ENSP00000341940.2:n.*72C>T
ENST00000397368.2:c.*7-31C>T	ENSP00000380525.2:n.*7-31C>T
ENST00000472766.1:n.155+11949C>T
NM_001234.4:c.*7-31C>T	NP_001225.1:n.*7-31C>T
NM_033337.2:c.*72C>T , LRG_329t1:c.*72C>T	NP_203123.1:n.*72C>T
NM_001234.5:c.*7-31C>T	NP_001225.1:n.*7-31C>T
NM_033337.3:c.*72C>T MANE Select	NP_203123.1:n.*72C>T