Canonical Allele Identifier: CA5852166

Gene: CAVIN3

Linked Data

• dbSNP Id: rs752154347
• ExAC: 11:6340356 A / G
• gnomAD v2: 11-6340356-A-G
• gnomAD v4: 11-6319126-A-G
• MyVariant Identifiers: chr11:g.6340356A>G (hg19) ; chr11:g.6319126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319126A>G , CM000673.2:g.6319126A>G	GRCh38
NC_000011.9:g.6340356A>G , CM000673.1:g.6340356A>G	GRCh37
NC_000011.8:g.6296932A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*37T>C MANE Select	ENSP00000307292.3:n.*37T>C
ENST00000303927.3:c.*37T>C	ENSP00000307292.3:n.*37T>C
ENST00000532354.1:n.845T>C
NM_145040.2:c.*37T>C	NP_659477.2:n.*37T>C
XR_930997.1:n.720+906A>G
NM_145040.3:c.*37T>C MANE Select	NP_659477.2:n.*37T>C