Canonical Allele Identifier: CA5852259
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1051992
ExAC: 11:6340706 A / G
gnomAD v2: 11-6340706-A-G
gnomAD v3: 11-6319476-A-G
gnomAD v4: 11-6319476-A-G
MyVariant Identifiers: chr11:g.6340706A>G (hg19) chr11:g.6319476A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319476A>G , CM000673.2:g.6319476A>G GRCh38
NC_000011.9:g.6340706A>G , CM000673.1:g.6340706A>G GRCh37
NC_000011.8:g.6297282A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.473T>C MANE Select ENSP00000307292.3:p.Leu158Pro
ENST00000303927.3:c.473T>C ENSP00000307292.3:p.Leu158Pro
ENST00000524852.1:n.259T>C
ENST00000530979.1:c.569T>C ENSP00000432047.1:p.Leu190Pro
ENST00000532354.1:n.495T>C
NM_145040.2:c.473T>C NP_659477.2:p.Leu158Pro
XR_930997.1:n.720+1256A>G
XR_001748106.1:n.87A>G
XR_242848.4:n.336A>G
NM_145040.3:c.473T>C MANE Select NP_659477.2:p.Leu158Pro
Search 100 bp 5'
Search 100 bp 3'