Canonical Allele Identifier: CA2684555633
Gene: CAV1 HGNC NCBI

Linked Data

gnomAD v4: 7-116525220-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116525220C>A , CM000669.2:g.116525220C>A GRCh38
NC_000007.13:g.116165274C>A , CM000669.1:g.116165274C>A GRCh37
NC_000007.12:g.115952510C>A NCBI36
NG_012051.1:g.5436C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341049.7:c.30+128C>A MANE Select ENSP00000339191.2:n.30+128C>A
ENST00000614113.5:c.30+128C>A ENSP00000479447.2:n.30+128C>A
ENST00000341049.6:c.30+128C>A ENSP00000339191.2:n.30+128C>A
ENST00000393470.1:c.30+128C>A ENSP00000377113.1:n.30+128C>A
ENST00000451122.5:c.158C>A ENSP00000409541.1:p.Ala53Glu
ENST00000489856.1:n.81+128C>A
ENST00000614113.4:c.-649C>A ENSP00000479447.1:n.-649C>A
NM_001172895.1:c.-649C>A NP_001166366.1:n.-649C>A
NM_001753.4:c.30+128C>A NP_001744.2:n.30+128C>A
NM_001753.5:c.30+128C>A MANE Select NP_001744.2:n.30+128C>A
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