Canonical Allele Identifier: CA934768831

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1846775597
• gnomAD v3: 11-6319391-T-TA
• gnomAD v4: 11-6319391-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319392dup , CM000673.2:g.6319392dup	GRCh38
NC_000011.9:g.6340622dup , CM000673.1:g.6340622dup	GRCh37
NC_000011.8:g.6297198dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.557dup MANE Select	ENSP00000307292.3:p.Gln187ThrfsTer?
ENST00000303927.3:c.557dup	ENSP00000307292.3:p.Gln187ThrfsTer?
ENST00000524852.1:n.343dup
ENST00000530979.1:c.653dup	ENSP00000432047.1:p.Gln219ThrfsTer?
ENST00000532354.1:n.579dup
NM_145040.2:c.557dup	NP_659477.2:p.Gln187ThrfsTer?
XR_930997.1:n.720+1172dup
XR_001748106.1:n.3dup
XR_242848.4:n.252dup
NM_145040.3:c.557dup MANE Select	NP_659477.2:p.Gln187ThrfsTer?