Canonical Allele Identifier: CA2236270

Linked Data

ClinVar Variation Id: 388403
ClinVar RCV Id: RCV000422757
dbSNP Id: rs72546666
gnomAD v2: 3-8775530-G-A
gnomAD v3: 3-8733844-G-A
gnomAD v4: 3-8733844-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733844G>A , CM000665.2:g.8733844G>A GRCh38
NC_000003.11:g.8775530G>A , CM000665.1:g.8775530G>A GRCh37
NC_000003.10:g.8750530G>A NCBI36
NG_008797.2:g.5035G>A , LRG_329:g.5035G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.-33G>A (CAV3) MANE Select ENSP00000341940.2:n.-33G>A
ENST00000343849.2:c.-33G>A (CAV3) ENSP00000341940.2:n.-33G>A
ENST00000435138.5:c.64+8615C>T (SSUH2) ENSP00000412333.1:n.64+8615C>T
ENST00000472766.1:n.9G>A (CAV3)
ENST00000478513.1:n.335+8615C>T (SSUH2)
NM_001234.4:c.-33G>A (CAV3) NP_001225.1:n.-33G>A
NM_033337.2:c.-33G>A , LRG_329t1:c.-33G>A (CAV3) NP_203123.1:n.-33G>A
XR_940435.1:n.330+8615C>T (SSUH2)
XM_017006530.1:c.-283+8615C>T (SSUH2) XP_016862019.1:n.-283+8615C>T
NM_001234.5:c.-33G>A (CAV3) NP_001225.1:n.-33G>A
NM_033337.3:c.-33G>A (CAV3) MANE Select NP_203123.1:n.-33G>A