Canonical Allele Identifier: CA4447777

Gene: CAV1

Linked Data

• dbSNP Id: rs775471521
• ExAC: 7:116165271 T / A
• gnomAD v2: 7-116165271-T-A
• gnomAD v4: 7-116525217-T-A
• MyVariant Identifiers: chr7:g.116165271T>A (hg19) ; chr7:g.116525217T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525217T>A , CM000669.2:g.116525217T>A	GRCh38
NC_000007.13:g.116165271T>A , CM000669.1:g.116165271T>A	GRCh37
NC_000007.12:g.115952507T>A	NCBI36
NG_012051.1:g.5433T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.30+125T>A MANE Select	ENSP00000339191.2:n.30+125T>A
ENST00000614113.5:c.30+125T>A	ENSP00000479447.2:n.30+125T>A
ENST00000341049.6:c.30+125T>A	ENSP00000339191.2:n.30+125T>A
ENST00000393470.1:c.30+125T>A	ENSP00000377113.1:n.30+125T>A
ENST00000451122.5:c.155T>A	ENSP00000409541.1:p.Leu52Gln
ENST00000489856.1:n.81+125T>A
ENST00000614113.4:c.-652T>A	ENSP00000479447.1:n.-652T>A
NM_001172895.1:c.-652T>A	NP_001166366.1:n.-652T>A
NM_001753.4:c.30+125T>A	NP_001744.2:n.30+125T>A
NM_001753.5:c.30+125T>A MANE Select	NP_001744.2:n.30+125T>A