Canonical Allele Identifier: CA379351958
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319237-G-A
MyVariant Identifiers: chr11:g.6340467G>A (hg19) chr11:g.6319237G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319237G>A , CM000673.2:g.6319237G>A GRCh38
NC_000011.9:g.6340467G>A , CM000673.1:g.6340467G>A GRCh37
NC_000011.8:g.6297043G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.712C>T MANE Select ENSP00000307292.3:p.Gln238Ter
ENST00000303927.3:c.712C>T ENSP00000307292.3:p.Gln238Ter
ENST00000524852.1:n.498C>T
ENST00000530979.1:c.808C>T ENSP00000432047.1:p.Gln270Ter
ENST00000532354.1:n.734C>T
NM_145040.2:c.712C>T NP_659477.2:p.Gln238Ter
XR_930997.1:n.720+1017G>A
XR_242848.4:n.97G>A
NM_145040.3:c.712C>T MANE Select NP_659477.2:p.Gln238Ter
Search 100 bp 5'
Search 100 bp 3'