Canonical Allele Identifier: CA2574738507

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319580-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319580A>G , CM000673.2:g.6319580A>G	GRCh38
NC_000011.9:g.6340810A>G , CM000673.1:g.6340810A>G	GRCh37
NC_000011.8:g.6297386A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-16T>C MANE Select	ENSP00000307292.3:n.385-16T>C
ENST00000303927.3:c.385-16T>C	ENSP00000307292.3:n.385-16T>C
ENST00000524852.1:n.155T>C
ENST00000530979.1:c.481-16T>C	ENSP00000432047.1:n.481-16T>C
ENST00000532354.1:n.407-16T>C
NM_145040.2:c.385-16T>C	NP_659477.2:n.385-16T>C
XR_242848.3:n.19A>G
XR_242849.3:n.19A>G
XR_428874.2:n.19A>G
XR_930992.1:n.19A>G
XR_930994.1:n.19A>G
XR_930995.1:n.19A>G
XR_930996.1:n.19A>G
XR_930997.1:n.720+1360A>G
XR_930998.1:n.19A>G
XR_930999.1:n.19A>G
XR_001748105.2:n.38A>G
XR_001748106.1:n.191A>G
XR_001748108.2:n.38A>G
XR_001748109.2:n.47A>G
XR_242848.4:n.440A>G
XR_930992.3:n.38A>G
XR_930994.3:n.38A>G
XR_930995.3:n.38A>G
XR_930998.3:n.38A>G
NM_145040.3:c.385-16T>C MANE Select	NP_659477.2:n.385-16T>C