Canonical Allele Identifier: CA379352242
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs767287993
gnomAD v2: 11-6340616-C-A
gnomAD v3: 11-6319386-C-A
gnomAD v4: 11-6319386-C-A
MyVariant Identifiers: chr11:g.6340616C>A (hg19) chr11:g.6319386C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319386C>A , CM000673.2:g.6319386C>A GRCh38
NC_000011.9:g.6340616C>A , CM000673.1:g.6340616C>A GRCh37
NC_000011.8:g.6297192C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.563G>T MANE Select ENSP00000307292.3:p.Ser188Ile
ENST00000303927.3:c.563G>T ENSP00000307292.3:p.Ser188Ile
ENST00000524852.1:n.349G>T
ENST00000530979.1:c.659G>T ENSP00000432047.1:p.Ser220Ile
ENST00000532354.1:n.585G>T
NM_145040.2:c.563G>T NP_659477.2:p.Ser188Ile
XR_930997.1:n.720+1166C>A
XR_242848.4:n.246C>A
NM_145040.3:c.563G>T MANE Select NP_659477.2:p.Ser188Ile
Search 100 bp 5'
Search 100 bp 3'