Canonical Allele Identifier: CA472720330
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1272791311
gnomAD v2: 11-6340429-G-A
gnomAD v4: 11-6319199-G-A
MyVariant Identifiers: chr11:g.6340429G>A (hg19) chr11:g.6319199G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319199G>A , CM000673.2:g.6319199G>A GRCh38
NC_000011.9:g.6340429G>A , CM000673.1:g.6340429G>A GRCh37
NC_000011.8:g.6297005G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.750C>T MANE Select ENSP00000307292.3:p.Ala250=
ENST00000303927.3:c.750C>T ENSP00000307292.3:p.Ala250=
ENST00000524852.1:n.536C>T
ENST00000530979.1:c.846C>T ENSP00000432047.1:p.Ala282=
ENST00000532354.1:n.772C>T
NM_145040.2:c.750C>T NP_659477.2:p.Ala250=
XR_930997.1:n.720+979G>A
XR_242848.4:n.59G>A
NM_145040.3:c.750C>T MANE Select NP_659477.2:p.Ala250=
Search 100 bp 5'
Search 100 bp 3'