Canonical Allele Identifier: CA217265440

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1020655749
• gnomAD v2: 11-6340349-T-C
• gnomAD v3: 11-6319119-T-C
• gnomAD v4: 11-6319119-T-C
• MyVariant Identifiers: chr11:g.6340349T>C (hg19) ; chr11:g.6319119T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319119T>C , CM000673.2:g.6319119T>C	GRCh38
NC_000011.9:g.6340349T>C , CM000673.1:g.6340349T>C	GRCh37
NC_000011.8:g.6296925T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*44A>G MANE Select	ENSP00000307292.3:n.*44A>G
ENST00000303927.3:c.*44A>G	ENSP00000307292.3:n.*44A>G
ENST00000532354.1:n.852A>G
NM_145040.2:c.*44A>G	NP_659477.2:n.*44A>G
XR_930997.1:n.720+899T>C
NM_145040.3:c.*44A>G MANE Select	NP_659477.2:n.*44A>G