Canonical Allele Identifier: CA911560907

Linked Data

dbSNP Id: rs1371684715
gnomAD v3: 3-8741747-G-T
gnomAD v4: 3-8741747-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8741747G>T , CM000665.2:g.8741747G>T GRCh38
NC_000003.11:g.8783433G>T , CM000665.1:g.8783433G>T GRCh37
NC_000003.10:g.8758433G>T NCBI36
NG_008797.2:g.12938G>T , LRG_329:g.12938G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-3779G>T (CAV3) MANE Select ENSP00000341940.2:n.115-3779G>T
ENST00000343849.2:c.115-3779G>T (CAV3) ENSP00000341940.2:n.115-3779G>T
ENST00000397368.2:c.115-3779G>T (CAV3) ENSP00000380525.2:n.115-3779G>T
ENST00000435138.5:c.64+712C>A (SSUH2) ENSP00000412333.1:n.64+712C>A
ENST00000472766.1:n.155+7757G>T (CAV3)
ENST00000478513.1:n.335+712C>A (SSUH2)
NM_001234.4:c.115-3779G>T (CAV3) NP_001225.1:n.115-3779G>T
NM_033337.2:c.115-3779G>T , LRG_329t1:c.115-3779G>T (CAV3) NP_203123.1:n.115-3779G>T
XR_940435.1:n.330+712C>A (SSUH2)
XM_017006530.1:c.-283+712C>A (SSUH2) XP_016862019.1:n.-283+712C>A
NM_001234.5:c.115-3779G>T (CAV3) NP_001225.1:n.115-3779G>T
NM_033337.3:c.115-3779G>T (CAV3) MANE Select NP_203123.1:n.115-3779G>T