Canonical Allele Identifier: CA217266698

Gene: CAVIN3

Linked Data

• dbSNP Id: rs35301211
• gnomAD v4: 11-6320301-C-T
• MyVariant Identifiers: chr11:g.6341531C>T (hg19) ; chr11:g.6320301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6320301C>T , CM000673.2:g.6320301C>T	GRCh38
NC_000011.9:g.6341531C>T , CM000673.1:g.6341531C>T	GRCh37
NC_000011.8:g.6298107C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000303927.4:c.176G>A MANE Select	ENSP00000307292.3:p.Arg59His
ENST00000303927.3:c.176G>A	ENSP00000307292.3:p.Arg59His
ENST00000530979.1:c.176G>A	ENSP00000432047.1:p.Arg59His
NM_145040.2:c.176G>A	NP_659477.2:p.Arg59His
XR_242848.3:n.136+604C>T
XR_242849.3:n.136+604C>T
XR_428874.2:n.136+604C>T
XR_930992.1:n.136+604C>T
XR_930994.1:n.136+604C>T
XR_930995.1:n.136+604C>T
XR_930996.1:n.136+604C>T
XR_930997.1:n.720+2081C>T
XR_930998.1:n.136+604C>T
XR_930999.1:n.136+604C>T
XR_001748105.2:n.155+604C>T
XR_001748106.1:n.308+604C>T
XR_001748108.2:n.155+604C>T
XR_001748109.2:n.164+604C>T
XR_242848.4:n.557+604C>T
XR_930992.3:n.155+604C>T
XR_930994.3:n.155+604C>T
XR_930995.3:n.155+604C>T
XR_930998.3:n.155+604C>T
NM_145040.3:c.176G>A MANE Select	NP_659477.2:p.Arg59His