Canonical Allele Identifier: CA379352328
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340658C>G (hg19) chr11:g.6319428C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319428C>G , CM000673.2:g.6319428C>G GRCh38
NC_000011.9:g.6340658C>G , CM000673.1:g.6340658C>G GRCh37
NC_000011.8:g.6297234C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.521G>C MANE Select ENSP00000307292.3:p.Arg174Thr
ENST00000303927.3:c.521G>C ENSP00000307292.3:p.Arg174Thr
ENST00000524852.1:n.307G>C
ENST00000530979.1:c.617G>C ENSP00000432047.1:p.Arg206Thr
ENST00000532354.1:n.543G>C
NM_145040.2:c.521G>C NP_659477.2:p.Arg174Thr
XR_930997.1:n.720+1208C>G
XR_001748106.1:n.39C>G
XR_242848.4:n.288C>G
NM_145040.3:c.521G>C MANE Select NP_659477.2:p.Arg174Thr
Search 100 bp 5'
Search 100 bp 3'