Canonical Allele Identifier: CA351663366

Gene: CAV3

Linked Data

• dbSNP Id: rs1377728849
• gnomAD v2: 3-8787342-T-G
• gnomAD v4: 3-8745656-T-G
• MyVariant Identifiers: chr3:g.8787342T>G (hg19) ; chr3:g.8745656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745656T>G , CM000665.2:g.8745656T>G	GRCh38
NC_000003.11:g.8787342T>G , CM000665.1:g.8787342T>G	GRCh37
NC_000003.10:g.8762342T>G	NCBI36
NG_008797.2:g.16847T>G , LRG_329:g.16847T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.245T>G MANE Select	ENSP00000341940.2:p.Val82Gly
ENST00000343849.2:c.245T>G	ENSP00000341940.2:p.Val82Gly
ENST00000397368.2:c.245T>G	ENSP00000380525.2:p.Val82Gly
ENST00000472766.1:n.155+11666T>G
NM_001234.4:c.245T>G	NP_001225.1:p.Val82Gly
NM_033337.2:c.245T>G , LRG_329t1:c.245T>G	NP_203123.1:p.Val82Gly
NM_001234.5:c.245T>G	NP_001225.1:p.Val82Gly
NM_033337.3:c.245T>G MANE Select	NP_203123.1:p.Val82Gly