Canonical Allele Identifier: CA4447741

Gene: CAV1

Linked Data

• ClinVar Variation Id: 1960879
• ClinVar RCV Id: RCV002706694
• dbSNP Id: rs199578058
• ExAC: 7:116165159 G / C
• gnomAD v2: 7-116165159-G-C
• gnomAD v3: 7-116525105-G-C
• gnomAD v4: 7-116525105-G-C
• MyVariant Identifiers: chr7:g.116165159G>C (hg19) ; chr7:g.116525105G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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