Canonical Allele Identifier: CA379352439

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319480-G-T
• MyVariant Identifiers: chr11:g.6340710G>T (hg19) ; chr11:g.6319480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319480G>T , CM000673.2:g.6319480G>T	GRCh38
NC_000011.9:g.6340710G>T , CM000673.1:g.6340710G>T	GRCh37
NC_000011.8:g.6297286G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.469C>A MANE Select	ENSP00000307292.3:p.Gln157Lys
ENST00000303927.3:c.469C>A	ENSP00000307292.3:p.Gln157Lys
ENST00000524852.1:n.255C>A
ENST00000530979.1:c.565C>A	ENSP00000432047.1:p.Gln189Lys
ENST00000532354.1:n.491C>A
NM_145040.2:c.469C>A	NP_659477.2:p.Gln157Lys
XR_930997.1:n.720+1260G>T
XR_001748106.1:n.91G>T
XR_242848.4:n.340G>T
NM_145040.3:c.469C>A MANE Select	NP_659477.2:p.Gln157Lys