Canonical Allele Identifier: CA5852192
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs750250385
gnomAD v2: 11-6340439-G-A
gnomAD v3: 11-6319209-G-A
gnomAD v4: 11-6319209-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319209G>A , CM000673.2:g.6319209G>A GRCh38
NC_000011.9:g.6340439G>A , CM000673.1:g.6340439G>A GRCh37
NC_000011.8:g.6297015G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.740C>T MANE Select ENSP00000307292.3:p.Pro247Leu
ENST00000303927.3:c.740C>T ENSP00000307292.3:p.Pro247Leu
ENST00000524852.1:n.526C>T
ENST00000530979.1:c.836C>T ENSP00000432047.1:p.Pro279Leu
ENST00000532354.1:n.762C>T
NM_145040.2:c.740C>T NP_659477.2:p.Pro247Leu
XR_930997.1:n.720+989G>A
XR_242848.4:n.69G>A
NM_145040.3:c.740C>T MANE Select NP_659477.2:p.Pro247Leu