Canonical Allele Identifier: CA2612218995

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319631-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319631T>G , CM000673.2:g.6319631T>G	GRCh38
NC_000011.9:g.6340861T>G , CM000673.1:g.6340861T>G	GRCh37
NC_000011.8:g.6297437T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-67A>C MANE Select	ENSP00000307292.3:n.385-67A>C
ENST00000303927.3:c.385-67A>C	ENSP00000307292.3:n.385-67A>C
ENST00000524852.1:n.104A>C
ENST00000530979.1:c.480+26A>C	ENSP00000432047.1:n.480+26A>C
ENST00000532354.1:n.406+26A>C
NM_145040.2:c.385-67A>C	NP_659477.2:n.385-67A>C
XR_242848.3:n.70T>G
XR_242849.3:n.70T>G
XR_428874.2:n.70T>G
XR_930992.1:n.70T>G
XR_930994.1:n.70T>G
XR_930995.1:n.70T>G
XR_930996.1:n.70T>G
XR_930997.1:n.720+1411T>G
XR_930998.1:n.70T>G
XR_930999.1:n.70T>G
XR_001748105.2:n.89T>G
XR_001748106.1:n.242T>G
XR_001748108.2:n.89T>G
XR_001748109.2:n.98T>G
XR_242848.4:n.491T>G
XR_930992.3:n.89T>G
XR_930994.3:n.89T>G
XR_930995.3:n.89T>G
XR_930998.3:n.89T>G
NM_145040.3:c.385-67A>C MANE Select	NP_659477.2:n.385-67A>C