Canonical Allele Identifier: CA351663237

Gene: CAV3

Linked Data

• MyVariant Identifiers: chr3:g.8787275G>A (hg19) ; chr3:g.8745589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745589G>A , CM000665.2:g.8745589G>A	GRCh38
NC_000003.11:g.8787275G>A , CM000665.1:g.8787275G>A	GRCh37
NC_000003.10:g.8762275G>A	NCBI36
NG_008797.2:g.16780G>A , LRG_329:g.16780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.178G>A MANE Select	ENSP00000341940.2:p.Val60Met
ENST00000343849.2:c.178G>A	ENSP00000341940.2:p.Val60Met
ENST00000397368.2:c.178G>A	ENSP00000380525.2:p.Val60Met
ENST00000472766.1:n.155+11599G>A
NM_001234.4:c.178G>A	NP_001225.1:p.Val60Met
NM_033337.2:c.178G>A , LRG_329t1:c.178G>A	NP_203123.1:p.Val60Met
NM_001234.5:c.178G>A	NP_001225.1:p.Val60Met
NM_033337.3:c.178G>A MANE Select	NP_203123.1:p.Val60Met