Canonical Allele Identifier: CA1344405986

Gene: CAV3

Linked Data

• dbSNP Id: rs1575478218
• gnomAD v4: 3-8745921-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745921C>T , CM000665.2:g.8745921C>T	GRCh38
NC_000003.11:g.8787607C>T , CM000665.1:g.8787607C>T	GRCh37
NC_000003.10:g.8762607C>T	NCBI36
NG_008797.2:g.17112C>T , LRG_329:g.17112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*54C>T MANE Select	ENSP00000341940.2:n.*54C>T
ENST00000343849.2:c.*54C>T	ENSP00000341940.2:n.*54C>T
ENST00000397368.2:c.*7-49C>T	ENSP00000380525.2:n.*7-49C>T
ENST00000472766.1:n.155+11931C>T
NM_001234.4:c.*7-49C>T	NP_001225.1:n.*7-49C>T
NM_033337.2:c.*54C>T , LRG_329t1:c.*54C>T	NP_203123.1:n.*54C>T
NM_001234.5:c.*7-49C>T	NP_001225.1:n.*7-49C>T
NM_033337.3:c.*54C>T MANE Select	NP_203123.1:n.*54C>T