Canonical Allele Identifier: CA217265604
Gene: CAVIN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2467262
ClinVar RCV Id: RCV004256510
dbSNP Id: rs140314044
gnomAD v3: 11-6319204-C-A
gnomAD v4: 11-6319204-C-A
MyVariant Identifiers: chr11:g.6340434C>A (hg19) chr11:g.6319204C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319204C>A , CM000673.2:g.6319204C>A GRCh38
NC_000011.9:g.6340434C>A , CM000673.1:g.6340434C>A GRCh37
NC_000011.8:g.6297010C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.745G>T MANE Select ENSP00000307292.3:p.Ala249Ser
ENST00000303927.3:c.745G>T ENSP00000307292.3:p.Ala249Ser
ENST00000524852.1:n.531G>T
ENST00000530979.1:c.841G>T ENSP00000432047.1:p.Ala281Ser
ENST00000532354.1:n.767G>T
NM_145040.2:c.745G>T NP_659477.2:p.Ala249Ser
XR_930997.1:n.720+984C>A
XR_242848.4:n.64C>A
NM_145040.3:c.745G>T MANE Select NP_659477.2:p.Ala249Ser
Search 100 bp 5'
Search 100 bp 3'