Canonical Allele Identifier: CA597438039

Gene: CAVIN3

Linked Data

• dbSNP Id: rs1394655470
• gnomAD v2: 11-6340985-G-A
• gnomAD v3: 11-6319755-G-A
• gnomAD v4: 11-6319755-G-A
• MyVariant Identifiers: chr11:g.6340985G>A (hg19) ; chr11:g.6319755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319755G>A , CM000673.2:g.6319755G>A	GRCh38
NC_000011.9:g.6340985G>A , CM000673.1:g.6340985G>A	GRCh37
NC_000011.8:g.6297561G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-191C>T MANE Select	ENSP00000307292.3:n.385-191C>T
ENST00000303927.3:c.385-191C>T	ENSP00000307292.3:n.385-191C>T
ENST00000524852.1:n.64-84C>T
ENST00000530979.1:c.385-3C>T	ENSP00000432047.1:n.385-3C>T
ENST00000532354.1:n.308C>T
NM_145040.2:c.385-191C>T	NP_659477.2:n.385-191C>T
XR_242848.3:n.136+58G>A
XR_242849.3:n.136+58G>A
XR_428874.2:n.136+58G>A
XR_930992.1:n.136+58G>A
XR_930994.1:n.136+58G>A
XR_930995.1:n.136+58G>A
XR_930996.1:n.136+58G>A
XR_930997.1:n.720+1535G>A
XR_930998.1:n.136+58G>A
XR_930999.1:n.136+58G>A
XR_001748105.2:n.155+58G>A
XR_001748106.1:n.308+58G>A
XR_001748108.2:n.155+58G>A
XR_001748109.2:n.164+58G>A
XR_242848.4:n.557+58G>A
XR_930992.3:n.155+58G>A
XR_930994.3:n.155+58G>A
XR_930995.3:n.155+58G>A
XR_930998.3:n.155+58G>A
NM_145040.3:c.385-191C>T MANE Select	NP_659477.2:n.385-191C>T