Canonical Allele Identifier: CA379352137
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319329-A-G
MyVariant Identifiers: chr11:g.6340559A>G (hg19) chr11:g.6319329A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319329A>G , CM000673.2:g.6319329A>G GRCh38
NC_000011.9:g.6340559A>G , CM000673.1:g.6340559A>G GRCh37
NC_000011.8:g.6297135A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.620T>C MANE Select ENSP00000307292.3:p.Val207Ala
ENST00000303927.3:c.620T>C ENSP00000307292.3:p.Val207Ala
ENST00000524852.1:n.406T>C
ENST00000530979.1:c.716T>C ENSP00000432047.1:p.Val239Ala
ENST00000532354.1:n.642T>C
NM_145040.2:c.620T>C NP_659477.2:p.Val207Ala
XR_930997.1:n.720+1109A>G
XR_242848.4:n.189A>G
NM_145040.3:c.620T>C MANE Select NP_659477.2:p.Val207Ala
Search 100 bp 5'
Search 100 bp 3'