Canonical Allele Identifier: CA472720340
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs778670696
gnomAD v4: 11-6319208-A-G
MyVariant Identifiers: chr11:g.6340438A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319208A>G , CM000673.2:g.6319208A>G GRCh38
NC_000011.9:g.6340438A>G , CM000673.1:g.6340438A>G GRCh37
NC_000011.8:g.6297014A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.741T>C MANE Select ENSP00000307292.3:p.Pro247=
ENST00000303927.3:c.741T>C ENSP00000307292.3:p.Pro247=
ENST00000524852.1:n.527T>C
ENST00000530979.1:c.837T>C ENSP00000432047.1:p.Pro279=
ENST00000532354.1:n.763T>C
NM_145040.2:c.741T>C NP_659477.2:p.Pro247=
XR_930997.1:n.720+988A>G
XR_242848.4:n.68A>G
NM_145040.3:c.741T>C MANE Select NP_659477.2:p.Pro247=
Search 100 bp 5'
Search 100 bp 3'