Canonical Allele Identifier: CA472908995
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340714T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319484T>G , CM000673.2:g.6319484T>G GRCh38
NC_000011.9:g.6340714T>G , CM000673.1:g.6340714T>G GRCh37
NC_000011.8:g.6297290T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.465A>C MANE Select ENSP00000307292.3:p.Pro155=
ENST00000303927.3:c.465A>C ENSP00000307292.3:p.Pro155=
ENST00000524852.1:n.251A>C
ENST00000530979.1:c.561A>C ENSP00000432047.1:p.Pro187=
ENST00000532354.1:n.487A>C
NM_145040.2:c.465A>C NP_659477.2:p.Pro155=
XR_930997.1:n.720+1264T>G
XR_001748106.1:n.95T>G
XR_242848.4:n.344T>G
NM_145040.3:c.465A>C MANE Select NP_659477.2:p.Pro155=