Canonical Allele Identifier: CA379351830
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319197-T-C
MyVariant Identifiers: chr11:g.6340427T>C (hg19) chr11:g.6319197T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319197T>C , CM000673.2:g.6319197T>C GRCh38
NC_000011.9:g.6340427T>C , CM000673.1:g.6340427T>C GRCh37
NC_000011.8:g.6297003T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.752A>G MANE Select ENSP00000307292.3:p.Glu251Gly
ENST00000303927.3:c.752A>G ENSP00000307292.3:p.Glu251Gly
ENST00000524852.1:n.538A>G
ENST00000530979.1:c.848A>G ENSP00000432047.1:p.Glu283Gly
ENST00000532354.1:n.774A>G
NM_145040.2:c.752A>G NP_659477.2:p.Glu251Gly
XR_930997.1:n.720+977T>C
XR_242848.4:n.57T>C
NM_145040.3:c.752A>G MANE Select NP_659477.2:p.Glu251Gly
Search 100 bp 5'
Search 100 bp 3'