Canonical Allele Identifier: CA379351906

Gene: CAVIN3

Linked Data

• MyVariant Identifiers: chr11:g.6340445C>A (hg19) ; chr11:g.6319215C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319215C>A , CM000673.2:g.6319215C>A	GRCh38
NC_000011.9:g.6340445C>A , CM000673.1:g.6340445C>A	GRCh37
NC_000011.8:g.6297021C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.734G>T MANE Select	ENSP00000307292.3:p.Gly245Val
ENST00000303927.3:c.734G>T	ENSP00000307292.3:p.Gly245Val
ENST00000524852.1:n.520G>T
ENST00000530979.1:c.830G>T	ENSP00000432047.1:p.Gly277Val
ENST00000532354.1:n.756G>T
NM_145040.2:c.734G>T	NP_659477.2:p.Gly245Val
XR_930997.1:n.720+995C>A
XR_242848.4:n.75C>A
NM_145040.3:c.734G>T MANE Select	NP_659477.2:p.Gly245Val