Canonical Allele Identifier: CA2612219052

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319765-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319765G>C , CM000673.2:g.6319765G>C	GRCh38
NC_000011.9:g.6340995G>C , CM000673.1:g.6340995G>C	GRCh37
NC_000011.8:g.6297571G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-201C>G MANE Select	ENSP00000307292.3:n.385-201C>G
ENST00000303927.3:c.385-201C>G	ENSP00000307292.3:n.385-201C>G
ENST00000524852.1:n.64-94C>G
ENST00000530979.1:c.385-13C>G	ENSP00000432047.1:n.385-13C>G
ENST00000532354.1:n.298C>G
NM_145040.2:c.385-201C>G	NP_659477.2:n.385-201C>G
XR_242848.3:n.136+68G>C
XR_242849.3:n.136+68G>C
XR_428874.2:n.136+68G>C
XR_930992.1:n.136+68G>C
XR_930994.1:n.136+68G>C
XR_930995.1:n.136+68G>C
XR_930996.1:n.136+68G>C
XR_930997.1:n.720+1545G>C
XR_930998.1:n.136+68G>C
XR_930999.1:n.136+68G>C
XR_001748105.2:n.155+68G>C
XR_001748106.1:n.308+68G>C
XR_001748108.2:n.155+68G>C
XR_001748109.2:n.164+68G>C
XR_242848.4:n.557+68G>C
XR_930992.3:n.155+68G>C
XR_930994.3:n.155+68G>C
XR_930995.3:n.155+68G>C
XR_930998.3:n.155+68G>C
NM_145040.3:c.385-201C>G MANE Select	NP_659477.2:n.385-201C>G