Canonical Allele Identifier: CA934768690
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1590694139
gnomAD v3: 11-6319106-G-A
gnomAD v4: 11-6319106-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319106G>A , CM000673.2:g.6319106G>A GRCh38
NC_000011.9:g.6340336G>A , CM000673.1:g.6340336G>A GRCh37
NC_000011.8:g.6296912G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000303927.4:c.*57C>T MANE Select ENSP00000307292.3:n.*57C>T
ENST00000303927.3:c.*57C>T ENSP00000307292.3:n.*57C>T
ENST00000532354.1:n.865C>T
NM_145040.2:c.*57C>T NP_659477.2:n.*57C>T
XR_930997.1:n.720+886G>A
NM_145040.3:c.*57C>T MANE Select NP_659477.2:n.*57C>T
Search 100 bp 5'
Search 100 bp 3'