Canonical Allele Identifier: CA679092105

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1419740836
• gnomAD v3: 11-6319849-G-A
• gnomAD v4: 11-6319849-G-A
• MyVariant Identifiers: chr11:g.6341079G>A (hg19) ; chr11:g.6319849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319849G>A , CM000673.2:g.6319849G>A	GRCh38
NC_000011.9:g.6341079G>A , CM000673.1:g.6341079G>A	GRCh37
NC_000011.8:g.6297655G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.384+244C>T MANE Select	ENSP00000307292.3:n.384+244C>T
ENST00000303927.3:c.384+244C>T	ENSP00000307292.3:n.384+244C>T
ENST00000524852.1:n.64-178C>T
ENST00000530979.1:c.385-97C>T	ENSP00000432047.1:n.385-97C>T
ENST00000532354.1:n.214C>T
NM_145040.2:c.384+244C>T	NP_659477.2:n.384+244C>T
XR_242848.3:n.136+152G>A
XR_242849.3:n.136+152G>A
XR_428874.2:n.136+152G>A
XR_930992.1:n.136+152G>A
XR_930994.1:n.136+152G>A
XR_930995.1:n.136+152G>A
XR_930996.1:n.136+152G>A
XR_930997.1:n.720+1629G>A
XR_930998.1:n.136+152G>A
XR_930999.1:n.136+152G>A
XR_001748105.2:n.155+152G>A
XR_001748106.1:n.308+152G>A
XR_001748108.2:n.155+152G>A
XR_001748109.2:n.164+152G>A
XR_242848.4:n.557+152G>A
XR_930992.3:n.155+152G>A
XR_930994.3:n.155+152G>A
XR_930995.3:n.155+152G>A
XR_930998.3:n.155+152G>A
NM_145040.3:c.384+244C>T MANE Select	NP_659477.2:n.384+244C>T