Canonical Allele Identifier: CA2664271822

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745910-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745910G>A , CM000665.2:g.8745910G>A	GRCh38
NC_000003.11:g.8787596G>A , CM000665.1:g.8787596G>A	GRCh37
NC_000003.10:g.8762596G>A	NCBI36
NG_008797.2:g.17101G>A , LRG_329:g.17101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*43G>A MANE Select	ENSP00000341940.2:n.*43G>A
ENST00000343849.2:c.*43G>A	ENSP00000341940.2:n.*43G>A
ENST00000397368.2:c.*6+37G>A	ENSP00000380525.2:n.*6+37G>A
ENST00000472766.1:n.155+11920G>A
NM_001234.4:c.*6+37G>A	NP_001225.1:n.*6+37G>A
NM_033337.2:c.*43G>A , LRG_329t1:c.*43G>A	NP_203123.1:n.*43G>A
NM_001234.5:c.*6+37G>A	NP_001225.1:n.*6+37G>A
NM_033337.3:c.*43G>A MANE Select	NP_203123.1:n.*43G>A