Canonical Allele Identifier: CA13501049

Gene: CAVIN3

Linked Data

• dbSNP Id: rs73396966
• gnomAD v2: 11-6340248-A-G
• gnomAD v3: 11-6319018-A-G
• gnomAD v4: 11-6319018-A-G
• MyVariant Identifiers: chr11:g.6340248A>G (hg19) ; chr11:g.6319018A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319018A>G , CM000673.2:g.6319018A>G	GRCh38
NC_000011.9:g.6340248A>G , CM000673.1:g.6340248A>G	GRCh37
NC_000011.8:g.6296824A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*145T>C MANE Select	ENSP00000307292.3:n.*145T>C
ENST00000303927.3:c.*145T>C	ENSP00000307292.3:n.*145T>C
ENST00000532354.1:n.953T>C
NM_145040.2:c.*145T>C	NP_659477.2:n.*145T>C
XR_930997.1:n.720+798A>G
NM_145040.3:c.*145T>C MANE Select	NP_659477.2:n.*145T>C