Canonical Allele Identifier: CA472720389
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340501A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319271A>C , CM000673.2:g.6319271A>C GRCh38
NC_000011.9:g.6340501A>C , CM000673.1:g.6340501A>C GRCh37
NC_000011.8:g.6297077A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.678T>G MANE Select ENSP00000307292.3:p.Pro226=
ENST00000303927.3:c.678T>G ENSP00000307292.3:p.Pro226=
ENST00000524852.1:n.464T>G
ENST00000530979.1:c.774T>G ENSP00000432047.1:p.Pro258=
ENST00000532354.1:n.700T>G
NM_145040.2:c.678T>G NP_659477.2:p.Pro226=
XR_930997.1:n.720+1051A>C
XR_242848.4:n.131A>C
NM_145040.3:c.678T>G MANE Select NP_659477.2:p.Pro226=