Canonical Allele Identifier: CA597438023

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1178372457
• gnomAD v2: 11-6340847-C-G
• gnomAD v4: 11-6319617-C-G
• MyVariant Identifiers: chr11:g.6340847C>G (hg19) ; chr11:g.6319617C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319617C>G , CM000673.2:g.6319617C>G	GRCh38
NC_000011.9:g.6340847C>G , CM000673.1:g.6340847C>G	GRCh37
NC_000011.8:g.6297423C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-53G>C MANE Select	ENSP00000307292.3:n.385-53G>C
ENST00000303927.3:c.385-53G>C	ENSP00000307292.3:n.385-53G>C
ENST00000524852.1:n.118G>C
ENST00000530979.1:c.480+40G>C	ENSP00000432047.1:n.480+40G>C
ENST00000532354.1:n.406+40G>C
NM_145040.2:c.385-53G>C	NP_659477.2:n.385-53G>C
XR_242848.3:n.56C>G
XR_242849.3:n.56C>G
XR_428874.2:n.56C>G
XR_930992.1:n.56C>G
XR_930994.1:n.56C>G
XR_930995.1:n.56C>G
XR_930996.1:n.56C>G
XR_930997.1:n.720+1397C>G
XR_930998.1:n.56C>G
XR_930999.1:n.56C>G
XR_001748105.2:n.75C>G
XR_001748106.1:n.228C>G
XR_001748108.2:n.75C>G
XR_001748109.2:n.84C>G
XR_242848.4:n.477C>G
XR_930992.3:n.75C>G
XR_930994.3:n.75C>G
XR_930995.3:n.75C>G
XR_930998.3:n.75C>G
NM_145040.3:c.385-53G>C MANE Select	NP_659477.2:n.385-53G>C