Canonical Allele Identifier: CA379352018
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1273153511
gnomAD v2: 11-6340500-C-T
gnomAD v4: 11-6319270-C-T
MyVariant Identifiers: chr11:g.6340500C>T (hg19) chr11:g.6319270C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319270C>T , CM000673.2:g.6319270C>T GRCh38
NC_000011.9:g.6340500C>T , CM000673.1:g.6340500C>T GRCh37
NC_000011.8:g.6297076C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.679G>A MANE Select ENSP00000307292.3:p.Ala227Thr
ENST00000303927.3:c.679G>A ENSP00000307292.3:p.Ala227Thr
ENST00000524852.1:n.465G>A
ENST00000530979.1:c.775G>A ENSP00000432047.1:p.Ala259Thr
ENST00000532354.1:n.701G>A
NM_145040.2:c.679G>A NP_659477.2:p.Ala227Thr
XR_930997.1:n.720+1050C>T
XR_242848.4:n.130C>T
NM_145040.3:c.679G>A MANE Select NP_659477.2:p.Ala227Thr
Search 100 bp 5'
Search 100 bp 3'