Canonical Allele Identifier: CA472720399
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1161356875
gnomAD v2: 11-6340516-C-T
gnomAD v4: 11-6319286-C-T
MyVariant Identifiers: chr11:g.6340516C>T (hg19) chr11:g.6319286C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319286C>T , CM000673.2:g.6319286C>T GRCh38
NC_000011.9:g.6340516C>T , CM000673.1:g.6340516C>T GRCh37
NC_000011.8:g.6297092C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.663G>A MANE Select ENSP00000307292.3:p.Gln221=
ENST00000303927.3:c.663G>A ENSP00000307292.3:p.Gln221=
ENST00000524852.1:n.449G>A
ENST00000530979.1:c.759G>A ENSP00000432047.1:p.Gln253=
ENST00000532354.1:n.685G>A
NM_145040.2:c.663G>A NP_659477.2:p.Gln221=
XR_930997.1:n.720+1066C>T
XR_242848.4:n.146C>T
NM_145040.3:c.663G>A MANE Select NP_659477.2:p.Gln221=
Search 100 bp 5'
Search 100 bp 3'