Canonical Allele Identifier: CA379351854

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319204-C-T
• MyVariant Identifiers: chr11:g.6340434C>T (hg19) ; chr11:g.6319204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319204C>T , CM000673.2:g.6319204C>T	GRCh38
NC_000011.9:g.6340434C>T , CM000673.1:g.6340434C>T	GRCh37
NC_000011.8:g.6297010C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.745G>A MANE Select	ENSP00000307292.3:p.Ala249Thr
ENST00000303927.3:c.745G>A	ENSP00000307292.3:p.Ala249Thr
ENST00000524852.1:n.531G>A
ENST00000530979.1:c.841G>A	ENSP00000432047.1:p.Ala281Thr
ENST00000532354.1:n.767G>A
NM_145040.2:c.745G>A	NP_659477.2:p.Ala249Thr
XR_930997.1:n.720+984C>T
XR_242848.4:n.64C>T
NM_145040.3:c.745G>A MANE Select	NP_659477.2:p.Ala249Thr