Canonical Allele Identifier: CA379352292
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319408-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319408T>G , CM000673.2:g.6319408T>G GRCh38
NC_000011.9:g.6340638T>G , CM000673.1:g.6340638T>G GRCh37
NC_000011.8:g.6297214T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.541A>C MANE Select ENSP00000307292.3:p.Thr181Pro
ENST00000303927.3:c.541A>C ENSP00000307292.3:p.Thr181Pro
ENST00000524852.1:n.327A>C
ENST00000530979.1:c.637A>C ENSP00000432047.1:p.Thr213Pro
ENST00000532354.1:n.563A>C
NM_145040.2:c.541A>C NP_659477.2:p.Thr181Pro
XR_930997.1:n.720+1188T>G
XR_001748106.1:n.19T>G
XR_242848.4:n.268T>G
NM_145040.3:c.541A>C MANE Select NP_659477.2:p.Thr181Pro