Canonical Allele Identifier: CA379352048
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1471879667
gnomAD v2: 11-6340514-G-A
gnomAD v4: 11-6319284-G-A
MyVariant Identifiers: chr11:g.6340514G>A (hg19) chr11:g.6319284G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319284G>A , CM000673.2:g.6319284G>A GRCh38
NC_000011.9:g.6340514G>A , CM000673.1:g.6340514G>A GRCh37
NC_000011.8:g.6297090G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.665C>T MANE Select ENSP00000307292.3:p.Pro222Leu
ENST00000303927.3:c.665C>T ENSP00000307292.3:p.Pro222Leu
ENST00000524852.1:n.451C>T
ENST00000530979.1:c.761C>T ENSP00000432047.1:p.Pro254Leu
ENST00000532354.1:n.687C>T
NM_145040.2:c.665C>T NP_659477.2:p.Pro222Leu
XR_930997.1:n.720+1064G>A
XR_242848.4:n.144G>A
NM_145040.3:c.665C>T MANE Select NP_659477.2:p.Pro222Leu
Search 100 bp 5'
Search 100 bp 3'