Canonical Allele Identifier: CA5852283

Gene: CAVIN3

Linked Data

• dbSNP Id: rs758714200
• ExAC: 11:6340842 G / A
• gnomAD v2: 11-6340842-G-A
• gnomAD v4: 11-6319612-G-A
• MyVariant Identifiers: chr11:g.6340842G>A (hg19) ; chr11:g.6319612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319612G>A , CM000673.2:g.6319612G>A	GRCh38
NC_000011.9:g.6340842G>A , CM000673.1:g.6340842G>A	GRCh37
NC_000011.8:g.6297418G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-48C>T MANE Select	ENSP00000307292.3:n.385-48C>T
ENST00000303927.3:c.385-48C>T	ENSP00000307292.3:n.385-48C>T
ENST00000524852.1:n.123C>T
ENST00000530979.1:c.480+45C>T	ENSP00000432047.1:n.480+45C>T
ENST00000532354.1:n.406+45C>T
NM_145040.2:c.385-48C>T	NP_659477.2:n.385-48C>T
XR_242848.3:n.51G>A
XR_242849.3:n.51G>A
XR_428874.2:n.51G>A
XR_930992.1:n.51G>A
XR_930994.1:n.51G>A
XR_930995.1:n.51G>A
XR_930996.1:n.51G>A
XR_930997.1:n.720+1392G>A
XR_930998.1:n.51G>A
XR_930999.1:n.51G>A
XR_001748105.2:n.70G>A
XR_001748106.1:n.223G>A
XR_001748108.2:n.70G>A
XR_001748109.2:n.79G>A
XR_242848.4:n.472G>A
XR_930992.3:n.70G>A
XR_930994.3:n.70G>A
XR_930995.3:n.70G>A
XR_930998.3:n.70G>A
NM_145040.3:c.385-48C>T MANE Select	NP_659477.2:n.385-48C>T