Canonical Allele Identifier: CA1044890213

Linked Data

dbSNP Id: rs1366554452
gnomAD v3: 3-8738779-C-A
gnomAD v4: 3-8738779-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8738779C>A , CM000665.2:g.8738779C>A GRCh38
NC_000003.11:g.8780465C>A , CM000665.1:g.8780465C>A GRCh37
NC_000003.10:g.8755465C>A NCBI36
NG_008797.2:g.9970C>A , LRG_329:g.9970C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.114+4789C>A (CAV3) MANE Select ENSP00000341940.2:n.114+4789C>A
ENST00000343849.2:c.114+4789C>A (CAV3) ENSP00000341940.2:n.114+4789C>A
ENST00000397368.2:c.114+4789C>A (CAV3) ENSP00000380525.2:n.114+4789C>A
ENST00000435138.5:c.64+3680G>T (SSUH2) ENSP00000412333.1:n.64+3680G>T
ENST00000472766.1:n.155+4789C>A (CAV3)
ENST00000478513.1:n.335+3680G>T (SSUH2)
NM_001234.4:c.114+4789C>A (CAV3) NP_001225.1:n.114+4789C>A
NM_033337.2:c.114+4789C>A , LRG_329t1:c.114+4789C>A (CAV3) NP_203123.1:n.114+4789C>A
XR_940435.1:n.330+3680G>T (SSUH2)
XM_017006530.1:c.-283+3680G>T (SSUH2) XP_016862019.1:n.-283+3680G>T
NM_001234.5:c.114+4789C>A (CAV3) NP_001225.1:n.114+4789C>A
NM_033337.3:c.114+4789C>A (CAV3) MANE Select NP_203123.1:n.114+4789C>A