Canonical Allele Identifier: CA379352291
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.541A>G MANE Select ENSP00000307292.3:p.Thr181Ala
ENST00000303927.3:c.541A>G ENSP00000307292.3:p.Thr181Ala
ENST00000524852.1:n.327A>G
ENST00000530979.1:c.637A>G ENSP00000432047.1:p.Thr213Ala
ENST00000532354.1:n.563A>G
NM_145040.2:c.541A>G NP_659477.2:p.Thr181Ala
XR_930997.1:n.720+1188T>C
XR_001748106.1:n.19T>C
XR_242848.4:n.268T>C
NM_145040.3:c.541A>G MANE Select NP_659477.2:p.Thr181Ala