Canonical Allele Identifier: CA5852169

Gene: CAVIN3

Linked Data

• dbSNP Id: rs77678294
• ExAC: 11:6340362 C / T
• gnomAD v2: 11-6340362-C-T
• gnomAD v3: 11-6319132-C-T
• gnomAD v4: 11-6319132-C-T
• COSMIC: COSN8863524
• MyVariant Identifiers: chr11:g.6340362C>T (hg19) ; chr11:g.6319132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319132C>T , CM000673.2:g.6319132C>T	GRCh38
NC_000011.9:g.6340362C>T , CM000673.1:g.6340362C>T	GRCh37
NC_000011.8:g.6296938C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*31G>A MANE Select	ENSP00000307292.3:n.*31G>A
ENST00000303927.3:c.*31G>A	ENSP00000307292.3:n.*31G>A
ENST00000524852.1:n.603G>A
ENST00000532354.1:n.839G>A
NM_145040.2:c.*31G>A	NP_659477.2:n.*31G>A
XR_930997.1:n.720+912C>T
NM_145040.3:c.*31G>A MANE Select	NP_659477.2:n.*31G>A