Canonical Allele Identifier: CA1950112502

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1846764951

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319150G>A , CM000673.2:g.6319150G>A	GRCh38
NC_000011.9:g.6340380G>A , CM000673.1:g.6340380G>A	GRCh37
NC_000011.8:g.6296956G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*13C>T MANE Select	ENSP00000307292.3:n.*13C>T
ENST00000303927.3:c.*13C>T	ENSP00000307292.3:n.*13C>T
ENST00000524852.1:n.585C>T
ENST00000530979.1:c.*13C>T	ENSP00000432047.1:n.*13C>T
ENST00000532354.1:n.821C>T
NM_145040.2:c.*13C>T	NP_659477.2:n.*13C>T
XR_930997.1:n.720+930G>A
XR_242848.4:n.10G>A
NM_145040.3:c.*13C>T MANE Select	NP_659477.2:n.*13C>T