Canonical Allele Identifier: CA5852188
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs12294600
gnomAD v2: 11-6340416-G-A
gnomAD v3: 11-6319186-G-A
gnomAD v4: 11-6319186-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319186G>A , CM000673.2:g.6319186G>A GRCh38
NC_000011.9:g.6340416G>A , CM000673.1:g.6340416G>A GRCh37
NC_000011.8:g.6296992G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000303927.4:c.763C>T MANE Select ENSP00000307292.3:p.Leu255Phe
ENST00000303927.3:c.763C>T ENSP00000307292.3:p.Leu255Phe
ENST00000524852.1:n.549C>T
ENST00000530979.1:c.859C>T ENSP00000432047.1:p.Leu287Phe
ENST00000532354.1:n.785C>T
NM_145040.2:c.763C>T NP_659477.2:p.Leu255Phe
XR_930997.1:n.720+966G>A
XR_242848.4:n.46G>A
NM_145040.3:c.763C>T MANE Select NP_659477.2:p.Leu255Phe