Canonical Allele Identifier: CA2612218984

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319622-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319622A>C , CM000673.2:g.6319622A>C	GRCh38
NC_000011.9:g.6340852A>C , CM000673.1:g.6340852A>C	GRCh37
NC_000011.8:g.6297428A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-58T>G MANE Select	ENSP00000307292.3:n.385-58T>G
ENST00000303927.3:c.385-58T>G	ENSP00000307292.3:n.385-58T>G
ENST00000524852.1:n.113T>G
ENST00000530979.1:c.480+35T>G	ENSP00000432047.1:n.480+35T>G
ENST00000532354.1:n.406+35T>G
NM_145040.2:c.385-58T>G	NP_659477.2:n.385-58T>G
XR_242848.3:n.61A>C
XR_242849.3:n.61A>C
XR_428874.2:n.61A>C
XR_930992.1:n.61A>C
XR_930994.1:n.61A>C
XR_930995.1:n.61A>C
XR_930996.1:n.61A>C
XR_930997.1:n.720+1402A>C
XR_930998.1:n.61A>C
XR_930999.1:n.61A>C
XR_001748105.2:n.80A>C
XR_001748106.1:n.233A>C
XR_001748108.2:n.80A>C
XR_001748109.2:n.89A>C
XR_242848.4:n.482A>C
XR_930992.3:n.80A>C
XR_930994.3:n.80A>C
XR_930995.3:n.80A>C
XR_930998.3:n.80A>C
NM_145040.3:c.385-58T>G MANE Select	NP_659477.2:n.385-58T>G