Canonical Allele Identifier: CA379352221
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319372-G-T
MyVariant Identifiers: chr11:g.6340602G>T (hg19) chr11:g.6319372G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319372G>T , CM000673.2:g.6319372G>T GRCh38
NC_000011.9:g.6340602G>T , CM000673.1:g.6340602G>T GRCh37
NC_000011.8:g.6297178G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.577C>A MANE Select ENSP00000307292.3:p.Leu193Ile
ENST00000303927.3:c.577C>A ENSP00000307292.3:p.Leu193Ile
ENST00000524852.1:n.363C>A
ENST00000530979.1:c.673C>A ENSP00000432047.1:p.Leu225Ile
ENST00000532354.1:n.599C>A
NM_145040.2:c.577C>A NP_659477.2:p.Leu193Ile
XR_930997.1:n.720+1152G>T
XR_242848.4:n.232G>T
NM_145040.3:c.577C>A MANE Select NP_659477.2:p.Leu193Ile
Search 100 bp 5'
Search 100 bp 3'