Canonical Allele Identifier: CA379351841

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319200-G-A
• MyVariant Identifiers: chr11:g.6340430G>A (hg19) ; chr11:g.6319200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319200G>A , CM000673.2:g.6319200G>A	GRCh38
NC_000011.9:g.6340430G>A , CM000673.1:g.6340430G>A	GRCh37
NC_000011.8:g.6297006G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.749C>T MANE Select	ENSP00000307292.3:p.Ala250Val
ENST00000303927.3:c.749C>T	ENSP00000307292.3:p.Ala250Val
ENST00000524852.1:n.535C>T
ENST00000530979.1:c.845C>T	ENSP00000432047.1:p.Ala282Val
ENST00000532354.1:n.771C>T
NM_145040.2:c.749C>T	NP_659477.2:p.Ala250Val
XR_930997.1:n.720+980G>A
XR_242848.4:n.60G>A
NM_145040.3:c.749C>T MANE Select	NP_659477.2:p.Ala250Val