Canonical Allele Identifier: CA217265426
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs908504540
gnomAD v3: 11-6319088-G-T
gnomAD v4: 11-6319088-G-T
MyVariant Identifiers: chr11:g.6340318G>T (hg19) chr11:g.6319088G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319088G>T , CM000673.2:g.6319088G>T GRCh38
NC_000011.9:g.6340318G>T , CM000673.1:g.6340318G>T GRCh37
NC_000011.8:g.6296894G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000303927.4:c.*75C>A MANE Select ENSP00000307292.3:n.*75C>A
ENST00000303927.3:c.*75C>A ENSP00000307292.3:n.*75C>A
ENST00000532354.1:n.883C>A
NM_145040.2:c.*75C>A NP_659477.2:n.*75C>A
XR_930997.1:n.720+868G>T
NM_145040.3:c.*75C>A MANE Select NP_659477.2:n.*75C>A
Search 100 bp 5'
Search 100 bp 3'