Canonical Allele Identifier: CA183476

Linked Data

ClinVar Variation Id: 179005
dbSNP Id: rs200562715
gnomAD v2: 3-8775601-C-T
gnomAD v3: 3-8733915-C-T
gnomAD v4: 3-8733915-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733915C>T , CM000665.2:g.8733915C>T GRCh38
NC_000003.11:g.8775601C>T , CM000665.1:g.8775601C>T GRCh37
NC_000003.10:g.8750601C>T NCBI36
NG_008797.2:g.5106C>T , LRG_329:g.5106C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.39C>T (CAV3) MANE Select ENSP00000341940.2:p.Ile13=
ENST00000343849.2:c.39C>T (CAV3) ENSP00000341940.2:p.Ile13=
ENST00000397368.2:c.39C>T (CAV3) ENSP00000380525.2:p.Ile13=
ENST00000435138.5:c.64+8544G>A (SSUH2) ENSP00000412333.1:n.64+8544G>A
ENST00000472766.1:n.80C>T (CAV3)
ENST00000478513.1:n.335+8544G>A (SSUH2)
NM_001234.4:c.39C>T (CAV3) NP_001225.1:p.Ile13=
NM_033337.2:c.39C>T , LRG_329t1:c.39C>T (CAV3) NP_203123.1:p.Ile13=
XR_940435.1:n.330+8544G>A (SSUH2)
XM_017006530.1:c.-283+8544G>A (SSUH2) XP_016862019.1:n.-283+8544G>A
NM_001234.5:c.39C>T (CAV3) NP_001225.1:p.Ile13=
NM_033337.3:c.39C>T (CAV3) MANE Select NP_203123.1:p.Ile13=