Canonical Allele Identifier: CA5852204
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs139113360
ExAC: 11:6340496 A / T
gnomAD v2: 11-6340496-A-T
gnomAD v3: 11-6319266-A-T
gnomAD v4: 11-6319266-A-T
MyVariant Identifiers: chr11:g.6340496A>T (hg19) chr11:g.6319266A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319266A>T , CM000673.2:g.6319266A>T GRCh38
NC_000011.9:g.6340496A>T , CM000673.1:g.6340496A>T GRCh37
NC_000011.8:g.6297072A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.683T>A MANE Select ENSP00000307292.3:p.Leu228Gln
ENST00000303927.3:c.683T>A ENSP00000307292.3:p.Leu228Gln
ENST00000524852.1:n.469T>A
ENST00000530979.1:c.779T>A ENSP00000432047.1:p.Leu260Gln
ENST00000532354.1:n.705T>A
NM_145040.2:c.683T>A NP_659477.2:p.Leu228Gln
XR_930997.1:n.720+1046A>T
XR_242848.4:n.126A>T
NM_145040.3:c.683T>A MANE Select NP_659477.2:p.Leu228Gln
Search 100 bp 5'
Search 100 bp 3'