Canonical Allele Identifier: CA217265404

Gene: CAVIN3

Linked Data

• dbSNP Id: rs114336220
• gnomAD v2: 11-6340303-T-A
• gnomAD v3: 11-6319073-T-A
• gnomAD v4: 11-6319073-T-A
• MyVariant Identifiers: chr11:g.6340303T>A (hg19) ; chr11:g.6319073T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319073T>A , CM000673.2:g.6319073T>A	GRCh38
NC_000011.9:g.6340303T>A , CM000673.1:g.6340303T>A	GRCh37
NC_000011.8:g.6296879T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*90A>T MANE Select	ENSP00000307292.3:n.*90A>T
ENST00000303927.3:c.*90A>T	ENSP00000307292.3:n.*90A>T
ENST00000532354.1:n.898A>T
NM_145040.2:c.*90A>T	NP_659477.2:n.*90A>T
XR_930997.1:n.720+853T>A
NM_145040.3:c.*90A>T MANE Select	NP_659477.2:n.*90A>T