Canonical Allele Identifier: CA2612218888

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319160-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319160C>A , CM000673.2:g.6319160C>A	GRCh38
NC_000011.9:g.6340390C>A , CM000673.1:g.6340390C>A	GRCh37
NC_000011.8:g.6296966C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*3G>T MANE Select	ENSP00000307292.3:n.*3G>T
ENST00000303927.3:c.*3G>T	ENSP00000307292.3:n.*3G>T
ENST00000524852.1:n.575G>T
ENST00000530979.1:c.*3G>T	ENSP00000432047.1:n.*3G>T
ENST00000532354.1:n.811G>T
NM_145040.2:c.*3G>T	NP_659477.2:n.*3G>T
XR_930997.1:n.720+940C>A
XR_242848.4:n.20C>A
NM_145040.3:c.*3G>T MANE Select	NP_659477.2:n.*3G>T