Canonical Allele Identifier: CA4447795

Gene: CAV1

Linked Data

• dbSNP Id: rs749200814
• ExAC: 7:116165369 C / A
• gnomAD v2: 7-116165369-C-A
• gnomAD v4: 7-116525315-C-A
• MyVariant Identifiers: chr7:g.116165369C>A (hg19) ; chr7:g.116525315C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525315C>A , CM000669.2:g.116525315C>A	GRCh38
NC_000007.13:g.116165369C>A , CM000669.1:g.116165369C>A	GRCh37
NC_000007.12:g.115952605C>A	NCBI36
NG_012051.1:g.5531C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.30+223C>A MANE Select	ENSP00000339191.2:n.30+223C>A
ENST00000614113.5:c.30+223C>A	ENSP00000479447.2:n.30+223C>A
ENST00000341049.6:c.30+223C>A	ENSP00000339191.2:n.30+223C>A
ENST00000393470.1:c.30+223C>A	ENSP00000377113.1:n.30+223C>A
ENST00000451122.5:c.253C>A	ENSP00000409541.1:p.Leu85Met
ENST00000489856.1:n.81+223C>A
ENST00000614113.4:c.-554C>A	ENSP00000479447.1:n.-554C>A
NM_001172895.1:c.-554C>A	NP_001166366.1:n.-554C>A
NM_001753.4:c.30+223C>A	NP_001744.2:n.30+223C>A
NM_001753.5:c.30+223C>A MANE Select	NP_001744.2:n.30+223C>A