Canonical Allele Identifier: CA4447743
Gene: CAV1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116525105G>A , CM000669.2:g.116525105G>A GRCh38
NC_000007.13:g.116165159G>A , CM000669.1:g.116165159G>A GRCh37
NC_000007.12:g.115952395G>A NCBI36
NG_012051.1:g.5321G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341049.7:c.30+13G>A MANE Select ENSP00000339191.2:n.30+13G>A
ENST00000614113.5:c.30+13G>A ENSP00000479447.2:n.30+13G>A
ENST00000341049.6:c.30+13G>A ENSP00000339191.2:n.30+13G>A
ENST00000393470.1:c.30+13G>A ENSP00000377113.1:n.30+13G>A
ENST00000451122.5:c.43G>A ENSP00000409541.1:p.Gly15Arg
ENST00000489856.1:n.81+13G>A
ENST00000614113.4:c.-764G>A ENSP00000479447.1:n.-764G>A
NM_001172895.1:c.-764G>A NP_001166366.1:n.-764G>A
NM_001753.4:c.30+13G>A NP_001744.2:n.30+13G>A
NM_001753.5:c.30+13G>A MANE Select NP_001744.2:n.30+13G>A