Canonical Allele Identifier: CA69867067

Linked Data

dbSNP Id: rs1001617257

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8741856G>A , CM000665.2:g.8741856G>A GRCh38
NC_000003.11:g.8783542G>A , CM000665.1:g.8783542G>A GRCh37
NC_000003.10:g.8758542G>A NCBI36
NG_008797.2:g.13047G>A , LRG_329:g.13047G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-3670G>A (CAV3) MANE Select ENSP00000341940.2:n.115-3670G>A
ENST00000343849.2:c.115-3670G>A (CAV3) ENSP00000341940.2:n.115-3670G>A
ENST00000397368.2:c.115-3670G>A (CAV3) ENSP00000380525.2:n.115-3670G>A
ENST00000435138.5:c.64+603C>T (SSUH2) ENSP00000412333.1:n.64+603C>T
ENST00000472766.1:n.155+7866G>A (CAV3)
ENST00000478513.1:n.335+603C>T (SSUH2)
NM_001234.4:c.115-3670G>A (CAV3) NP_001225.1:n.115-3670G>A
NM_033337.2:c.115-3670G>A , LRG_329t1:c.115-3670G>A (CAV3) NP_203123.1:n.115-3670G>A
XR_940435.1:n.330+603C>T (SSUH2)
XM_017006530.1:c.-283+603C>T (SSUH2) XP_016862019.1:n.-283+603C>T
NM_001234.5:c.115-3670G>A (CAV3) NP_001225.1:n.115-3670G>A
NM_033337.3:c.115-3670G>A (CAV3) MANE Select NP_203123.1:n.115-3670G>A