Canonical Allele Identifier: CA1044891528

Linked Data

dbSNP Id: rs1707970088
gnomAD v3: 3-8741827-C-T
gnomAD v4: 3-8741827-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8741827C>T , CM000665.2:g.8741827C>T GRCh38
NC_000003.11:g.8783513C>T , CM000665.1:g.8783513C>T GRCh37
NC_000003.10:g.8758513C>T NCBI36
NG_008797.2:g.13018C>T , LRG_329:g.13018C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-3699C>T (CAV3) MANE Select ENSP00000341940.2:n.115-3699C>T
ENST00000343849.2:c.115-3699C>T (CAV3) ENSP00000341940.2:n.115-3699C>T
ENST00000397368.2:c.115-3699C>T (CAV3) ENSP00000380525.2:n.115-3699C>T
ENST00000435138.5:c.64+632G>A (SSUH2) ENSP00000412333.1:n.64+632G>A
ENST00000472766.1:n.155+7837C>T (CAV3)
ENST00000478513.1:n.335+632G>A (SSUH2)
NM_001234.4:c.115-3699C>T (CAV3) NP_001225.1:n.115-3699C>T
NM_033337.2:c.115-3699C>T , LRG_329t1:c.115-3699C>T (CAV3) NP_203123.1:n.115-3699C>T
XR_940435.1:n.330+632G>A (SSUH2)
XM_017006530.1:c.-283+632G>A (SSUH2) XP_016862019.1:n.-283+632G>A
NM_001234.5:c.115-3699C>T (CAV3) NP_001225.1:n.115-3699C>T
NM_033337.3:c.115-3699C>T (CAV3) MANE Select NP_203123.1:n.115-3699C>T