Canonical Allele Identifier: CA379353046

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1407322864
• gnomAD v2: 11-6340936-A-G
• gnomAD v3: 11-6319706-A-G
• gnomAD v4: 11-6319706-A-G
• MyVariant Identifiers: chr11:g.6340936A>G (hg19) ; chr11:g.6319706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319706A>G , CM000673.2:g.6319706A>G	GRCh38
NC_000011.9:g.6340936A>G , CM000673.1:g.6340936A>G	GRCh37
NC_000011.8:g.6297512A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-142T>C MANE Select	ENSP00000307292.3:n.385-142T>C
ENST00000303927.3:c.385-142T>C	ENSP00000307292.3:n.385-142T>C
ENST00000524852.1:n.64-35T>C
ENST00000530979.1:c.431T>C	ENSP00000432047.1:p.Leu144Pro
ENST00000532354.1:n.357T>C
NM_145040.2:c.385-142T>C	NP_659477.2:n.385-142T>C
XR_242848.3:n.136+9A>G
XR_242849.3:n.136+9A>G
XR_428874.2:n.136+9A>G
XR_930992.1:n.136+9A>G
XR_930994.1:n.136+9A>G
XR_930995.1:n.136+9A>G
XR_930996.1:n.136+9A>G
XR_930997.1:n.720+1486A>G
XR_930998.1:n.136+9A>G
XR_930999.1:n.136+9A>G
XR_001748105.2:n.155+9A>G
XR_001748106.1:n.308+9A>G
XR_001748108.2:n.155+9A>G
XR_001748109.2:n.164+9A>G
XR_242848.4:n.557+9A>G
XR_930992.3:n.155+9A>G
XR_930994.3:n.155+9A>G
XR_930995.3:n.155+9A>G
XR_930998.3:n.155+9A>G
NM_145040.3:c.385-142T>C MANE Select	NP_659477.2:n.385-142T>C