Canonical Allele Identifier: CA175393

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745627C>G , CM000665.2:g.8745627C>G	GRCh38
NC_000003.11:g.8787313C>G , CM000665.1:g.8787313C>G	GRCh37
NC_000003.10:g.8762313C>G	NCBI36
NG_008797.2:g.16818C>G , LRG_329:g.16818C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033337.3:c.216C>G MANE Select	NP_203123.1:p.Cys72Trp
ENST00000343849.3:c.216C>G MANE Select	ENSP00000341940.2:p.Cys72Trp
NM_001234.4:c.216C>G	NP_001225.1:p.Cys72Trp
NM_001234.5:c.216C>G	NP_001225.1:p.Cys72Trp
NM_033337.2:c.216C>G , LRG_329t1:c.216C>G	NP_203123.1:p.Cys72Trp
ENST00000343849.2:c.216C>G	ENSP00000341940.2:p.Cys72Trp
ENST00000397368.2:c.216C>G	ENSP00000380525.2:p.Cys72Trp
ENST00000472766.1:n.155+11637C>G