Canonical Allele Identifier: CA217266190

Gene: CAVIN3

Linked Data

• dbSNP Id: rs780701179
• gnomAD v4: 11-6319690-G-T
• MyVariant Identifiers: chr11:g.6340920G>T (hg19) ; chr11:g.6319690G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319690G>T , CM000673.2:g.6319690G>T	GRCh38
NC_000011.9:g.6340920G>T , CM000673.1:g.6340920G>T	GRCh37
NC_000011.8:g.6297496G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-126C>A MANE Select	ENSP00000307292.3:n.385-126C>A
ENST00000303927.3:c.385-126C>A	ENSP00000307292.3:n.385-126C>A
ENST00000524852.1:n.64-19C>A
ENST00000530979.1:c.447C>A	ENSP00000432047.1:p.His149Gln
ENST00000532354.1:n.373C>A
NM_145040.2:c.385-126C>A	NP_659477.2:n.385-126C>A
XR_242848.3:n.129G>T
XR_242849.3:n.129G>T
XR_428874.2:n.129G>T
XR_930992.1:n.129G>T
XR_930994.1:n.129G>T
XR_930995.1:n.129G>T
XR_930996.1:n.129G>T
XR_930997.1:n.720+1470G>T
XR_930998.1:n.129G>T
XR_930999.1:n.129G>T
XR_001748105.2:n.148G>T
XR_001748106.1:n.301G>T
XR_001748108.2:n.148G>T
XR_001748109.2:n.157G>T
XR_242848.4:n.550G>T
XR_930992.3:n.148G>T
XR_930994.3:n.148G>T
XR_930995.3:n.148G>T
XR_930998.3:n.148G>T
NM_145040.3:c.385-126C>A MANE Select	NP_659477.2:n.385-126C>A