Canonical Allele Identifier: CA379351909
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs758206149
gnomAD v2: 11-6340446-C-G
gnomAD v3: 11-6319216-C-G
gnomAD v4: 11-6319216-C-G
MyVariant Identifiers: chr11:g.6340446C>G (hg19) chr11:g.6319216C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319216C>G , CM000673.2:g.6319216C>G GRCh38
NC_000011.9:g.6340446C>G , CM000673.1:g.6340446C>G GRCh37
NC_000011.8:g.6297022C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.733G>C MANE Select ENSP00000307292.3:p.Gly245Arg
ENST00000303927.3:c.733G>C ENSP00000307292.3:p.Gly245Arg
ENST00000524852.1:n.519G>C
ENST00000530979.1:c.829G>C ENSP00000432047.1:p.Gly277Arg
ENST00000532354.1:n.755G>C
NM_145040.2:c.733G>C NP_659477.2:p.Gly245Arg
XR_930997.1:n.720+996C>G
XR_242848.4:n.76C>G
NM_145040.3:c.733G>C MANE Select NP_659477.2:p.Gly245Arg
Search 100 bp 5'
Search 100 bp 3'