Canonical Allele Identifier: CA472720358
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1846768271
gnomAD v3: 11-6319238-C-T
gnomAD v4: 11-6319238-C-T
MyVariant Identifiers: chr11:g.6340468C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319238C>T , CM000673.2:g.6319238C>T GRCh38
NC_000011.9:g.6340468C>T , CM000673.1:g.6340468C>T GRCh37
NC_000011.8:g.6297044C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.711G>A MANE Select ENSP00000307292.3:p.Pro237=
ENST00000303927.3:c.711G>A ENSP00000307292.3:p.Pro237=
ENST00000524852.1:n.497G>A
ENST00000530979.1:c.807G>A ENSP00000432047.1:p.Pro269=
ENST00000532354.1:n.733G>A
NM_145040.2:c.711G>A NP_659477.2:p.Pro237=
XR_930997.1:n.720+1018C>T
XR_242848.4:n.98C>T
NM_145040.3:c.711G>A MANE Select NP_659477.2:p.Pro237=
Search 100 bp 5'
Search 100 bp 3'