Canonical Allele Identifier: CA472720315

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319169-T-A
• MyVariant Identifiers: chr11:g.6340399T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319169T>A , CM000673.2:g.6319169T>A	GRCh38
NC_000011.9:g.6340399T>A , CM000673.1:g.6340399T>A	GRCh37
NC_000011.8:g.6296975T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.780A>T MANE Select	ENSP00000307292.3:p.Val260=
ENST00000303927.3:c.780A>T	ENSP00000307292.3:p.Val260=
ENST00000524852.1:n.566A>T
ENST00000530979.1:c.876A>T	ENSP00000432047.1:p.Val292=
ENST00000532354.1:n.802A>T
NM_145040.2:c.780A>T	NP_659477.2:p.Val260=
XR_930997.1:n.720+949T>A
XR_242848.4:n.29T>A
NM_145040.3:c.780A>T MANE Select	NP_659477.2:p.Val260=