Canonical Allele Identifier: CA379352116
Gene: CAVIN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2518916
ClinVar RCV Id: RCV004296809
dbSNP Id: rs1339201600
gnomAD v2: 11-6340548-G-T
gnomAD v4: 11-6319318-G-T
MyVariant Identifiers: chr11:g.6340548G>T (hg19) chr11:g.6319318G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319318G>T , CM000673.2:g.6319318G>T GRCh38
NC_000011.9:g.6340548G>T , CM000673.1:g.6340548G>T GRCh37
NC_000011.8:g.6297124G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.631C>A MANE Select ENSP00000307292.3:p.Arg211Ser
ENST00000303927.3:c.631C>A ENSP00000307292.3:p.Arg211Ser
ENST00000524852.1:n.417C>A
ENST00000530979.1:c.727C>A ENSP00000432047.1:p.Arg243Ser
ENST00000532354.1:n.653C>A
NM_145040.2:c.631C>A NP_659477.2:p.Arg211Ser
XR_930997.1:n.720+1098G>T
XR_242848.4:n.178G>T
NM_145040.3:c.631C>A MANE Select NP_659477.2:p.Arg211Ser
Search 100 bp 5'
Search 100 bp 3'