Canonical Allele Identifier: CA472908837
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319379-T-G
MyVariant Identifiers: chr11:g.6340609T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319379T>G , CM000673.2:g.6319379T>G GRCh38
NC_000011.9:g.6340609T>G , CM000673.1:g.6340609T>G GRCh37
NC_000011.8:g.6297185T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.570A>C MANE Select ENSP00000307292.3:p.Arg190=
ENST00000303927.3:c.570A>C ENSP00000307292.3:p.Arg190=
ENST00000524852.1:n.356A>C
ENST00000530979.1:c.666A>C ENSP00000432047.1:p.Arg222=
ENST00000532354.1:n.592A>C
NM_145040.2:c.570A>C NP_659477.2:p.Arg190=
XR_930997.1:n.720+1159T>G
XR_242848.4:n.239T>G
NM_145040.3:c.570A>C MANE Select NP_659477.2:p.Arg190=
Search 100 bp 5'
Search 100 bp 3'