Canonical Allele Identifier: CA472720339
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340438A>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.741T>G MANE Select ENSP00000307292.3:p.Pro247=
ENST00000303927.3:c.741T>G ENSP00000307292.3:p.Pro247=
ENST00000524852.1:n.527T>G
ENST00000530979.1:c.837T>G ENSP00000432047.1:p.Pro279=
ENST00000532354.1:n.763T>G
NM_145040.2:c.741T>G NP_659477.2:p.Pro247=
XR_930997.1:n.720+988A>C
XR_242848.4:n.68A>C
NM_145040.3:c.741T>G MANE Select NP_659477.2:p.Pro247=