Canonical Allele Identifier: CA1950112435
Gene: CAVIN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319036G= , CM000673.2:g.6319036G= GRCh38
NC_000011.9:g.6340266G= , CM000673.1:g.6340266G= GRCh37
NC_000011.8:g.6296842G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*127C= MANE Select ENSP00000307292.3:n.*127C=
ENST00000303927.3:c.*127C= ENSP00000307292.3:n.*127C=
ENST00000532354.1:n.935C=
NM_145040.2:c.*127C= NP_659477.2:n.*127C=
XR_930997.1:n.720+816G=
NM_145040.3:c.*127C= MANE Select NP_659477.2:n.*127C=
Search 100 bp 5'
Search 100 bp 3'