Canonical Allele Identifier: CA2702087413

Gene: CAV3

Linked Data

• dbSNP Id: rs2124988912

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745915A>G , CM000665.2:g.8745915A>G	GRCh38
NC_000003.11:g.8787601A>G , CM000665.1:g.8787601A>G	GRCh37
NC_000003.10:g.8762601A>G	NCBI36
NG_008797.2:g.17106A>G , LRG_329:g.17106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*48A>G MANE Select	ENSP00000341940.2:n.*48A>G
ENST00000343849.2:c.*48A>G	ENSP00000341940.2:n.*48A>G
ENST00000397368.2:c.*6+42A>G	ENSP00000380525.2:n.*6+42A>G
ENST00000472766.1:n.155+11925A>G
NM_001234.4:c.*6+42A>G	NP_001225.1:n.*6+42A>G
NM_033337.2:c.*48A>G , LRG_329t1:c.*48A>G	NP_203123.1:n.*48A>G
NM_001234.5:c.*6+42A>G	NP_001225.1:n.*6+42A>G
NM_033337.3:c.*48A>G MANE Select	NP_203123.1:n.*48A>G