Canonical Allele Identifier: CA217266173

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1051522852
• gnomAD v2: 11-6340903-T-C
• gnomAD v3: 11-6319673-T-C
• gnomAD v4: 11-6319673-T-C
• MyVariant Identifiers: chr11:g.6340903T>C (hg19) ; chr11:g.6340903_6340904delinsCG (hg19) ; chr11:g.6319673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319673T>C , CM000673.2:g.6319673T>C	GRCh38
NC_000011.9:g.6340903T>C , CM000673.1:g.6340903T>C	GRCh37
NC_000011.8:g.6297479T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-109A>G MANE Select	ENSP00000307292.3:n.385-109A>G
ENST00000303927.3:c.385-109A>G	ENSP00000307292.3:n.385-109A>G
ENST00000524852.1:n.64-2A>G
ENST00000530979.1:c.464A>G	ENSP00000432047.1:p.Gln155Arg
ENST00000532354.1:n.390A>G
NM_145040.2:c.385-109A>G	NP_659477.2:n.385-109A>G
XR_242848.3:n.112T>C
XR_242849.3:n.112T>C
XR_428874.2:n.112T>C
XR_930992.1:n.112T>C
XR_930994.1:n.112T>C
XR_930995.1:n.112T>C
XR_930996.1:n.112T>C
XR_930997.1:n.720+1453T>C
XR_930998.1:n.112T>C
XR_930999.1:n.112T>C
XR_001748105.2:n.131T>C
XR_001748106.1:n.284T>C
XR_001748108.2:n.131T>C
XR_001748109.2:n.140T>C
XR_242848.4:n.533T>C
XR_930992.3:n.131T>C
XR_930994.3:n.131T>C
XR_930995.3:n.131T>C
XR_930998.3:n.131T>C
NM_145040.3:c.385-109A>G MANE Select	NP_659477.2:n.385-109A>G