Canonical Allele Identifier: CA5852240
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs777880839
gnomAD v2: 11-6340626-T-C
gnomAD v4: 11-6319396-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319396T>C , CM000673.2:g.6319396T>C GRCh38
NC_000011.9:g.6340626T>C , CM000673.1:g.6340626T>C GRCh37
NC_000011.8:g.6297202T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.553A>G MANE Select ENSP00000307292.3:p.Lys185Glu
ENST00000303927.3:c.553A>G ENSP00000307292.3:p.Lys185Glu
ENST00000524852.1:n.339A>G
ENST00000530979.1:c.649A>G ENSP00000432047.1:p.Lys217Glu
ENST00000532354.1:n.575A>G
NM_145040.2:c.553A>G NP_659477.2:p.Lys185Glu
XR_930997.1:n.720+1176T>C
XR_001748106.1:n.7T>C
XR_242848.4:n.256T>C
NM_145040.3:c.553A>G MANE Select NP_659477.2:p.Lys185Glu