Canonical Allele Identifier: CA472720368
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340483C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319253C>A , CM000673.2:g.6319253C>A GRCh38
NC_000011.9:g.6340483C>A , CM000673.1:g.6340483C>A GRCh37
NC_000011.8:g.6297059C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.696G>T MANE Select ENSP00000307292.3:p.Leu232=
ENST00000303927.3:c.696G>T ENSP00000307292.3:p.Leu232=
ENST00000524852.1:n.482G>T
ENST00000530979.1:c.792G>T ENSP00000432047.1:p.Leu264=
ENST00000532354.1:n.718G>T
NM_145040.2:c.696G>T NP_659477.2:p.Leu232=
XR_930997.1:n.720+1033C>A
XR_242848.4:n.113C>A
NM_145040.3:c.696G>T MANE Select NP_659477.2:p.Leu232=