Canonical Allele Identifier: CA2684555639
Gene: CAV1 HGNC NCBI

Linked Data

gnomAD v4: 7-116525228-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116525228C>G , CM000669.2:g.116525228C>G GRCh38
NC_000007.13:g.116165282C>G , CM000669.1:g.116165282C>G GRCh37
NC_000007.12:g.115952518C>G NCBI36
NG_012051.1:g.5444C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000341049.7:c.30+136C>G MANE Select ENSP00000339191.2:n.30+136C>G
ENST00000614113.5:c.30+136C>G ENSP00000479447.2:n.30+136C>G
ENST00000341049.6:c.30+136C>G ENSP00000339191.2:n.30+136C>G
ENST00000393470.1:c.30+136C>G ENSP00000377113.1:n.30+136C>G
ENST00000451122.5:c.166C>G ENSP00000409541.1:p.Pro56Ala
ENST00000489856.1:n.81+136C>G
ENST00000614113.4:c.-641C>G ENSP00000479447.1:n.-641C>G
NM_001172895.1:c.-641C>G NP_001166366.1:n.-641C>G
NM_001753.4:c.30+136C>G NP_001744.2:n.30+136C>G
NM_001753.5:c.30+136C>G MANE Select NP_001744.2:n.30+136C>G
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