Canonical Allele Identifier: CA2684555643
Gene: CAV1 HGNC NCBI

Linked Data

gnomAD v4: 7-116525232-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116525232T>A , CM000669.2:g.116525232T>A GRCh38
NC_000007.13:g.116165286T>A , CM000669.1:g.116165286T>A GRCh37
NC_000007.12:g.115952522T>A NCBI36
NG_012051.1:g.5448T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341049.7:c.30+140T>A MANE Select ENSP00000339191.2:n.30+140T>A
ENST00000614113.5:c.30+140T>A ENSP00000479447.2:n.30+140T>A
ENST00000341049.6:c.30+140T>A ENSP00000339191.2:n.30+140T>A
ENST00000393470.1:c.30+140T>A ENSP00000377113.1:n.30+140T>A
ENST00000451122.5:c.170T>A ENSP00000409541.1:p.Leu57Gln
ENST00000489856.1:n.81+140T>A
ENST00000614113.4:c.-637T>A ENSP00000479447.1:n.-637T>A
NM_001172895.1:c.-637T>A NP_001166366.1:n.-637T>A
NM_001753.4:c.30+140T>A NP_001744.2:n.30+140T>A
NM_001753.5:c.30+140T>A MANE Select NP_001744.2:n.30+140T>A
Search 100 bp 5'
Search 100 bp 3'