Canonical Allele Identifier: CA2841241799

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745907T>G , CM000665.2:g.8745907T>G	GRCh38
NC_000003.11:g.8787593T>G , CM000665.1:g.8787593T>G	GRCh37
NC_000003.10:g.8762593T>G	NCBI36
NG_008797.2:g.17098T>G , LRG_329:g.17098T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*40T>G MANE Select	ENSP00000341940.2:n.*40T>G
ENST00000343849.2:c.*40T>G	ENSP00000341940.2:n.*40T>G
ENST00000397368.2:c.*6+34T>G	ENSP00000380525.2:n.*6+34T>G
ENST00000472766.1:n.155+11917T>G
NM_001234.4:c.*6+34T>G	NP_001225.1:n.*6+34T>G
NM_033337.2:c.*40T>G , LRG_329t1:c.*40T>G	NP_203123.1:n.*40T>G
NM_001234.5:c.*6+34T>G	NP_001225.1:n.*6+34T>G
NM_033337.3:c.*40T>G MANE Select	NP_203123.1:n.*40T>G