Canonical Allele Identifier: CA351663512

Gene: CAV3

Linked Data

• MyVariant Identifiers: chr3:g.8787418T>G (hg19) ; chr3:g.8745732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745732T>G , CM000665.2:g.8745732T>G	GRCh38
NC_000003.11:g.8787418T>G , CM000665.1:g.8787418T>G	GRCh37
NC_000003.10:g.8762418T>G	NCBI36
NG_008797.2:g.16923T>G , LRG_329:g.16923T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.321T>G MANE Select	ENSP00000341940.2:p.Ile107Met
ENST00000343849.2:c.321T>G	ENSP00000341940.2:p.Ile107Met
ENST00000397368.2:c.321T>G	ENSP00000380525.2:p.Ile107Met
ENST00000472766.1:n.155+11742T>G
NM_001234.4:c.321T>G	NP_001225.1:p.Ile107Met
NM_033337.2:c.321T>G , LRG_329t1:c.321T>G	NP_203123.1:p.Ile107Met
NM_001234.5:c.321T>G	NP_001225.1:p.Ile107Met
NM_033337.3:c.321T>G MANE Select	NP_203123.1:p.Ile107Met