Canonical Allele Identifier: CA540846323

Linked Data

dbSNP Id: rs1265291394
gnomAD v2: 3-8780382-T-C
gnomAD v3: 3-8738696-T-C
gnomAD v4: 3-8738696-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8738696T>C , CM000665.2:g.8738696T>C GRCh38
NC_000003.11:g.8780382T>C , CM000665.1:g.8780382T>C GRCh37
NC_000003.10:g.8755382T>C NCBI36
NG_008797.2:g.9887T>C , LRG_329:g.9887T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.114+4706T>C (CAV3) MANE Select ENSP00000341940.2:n.114+4706T>C
ENST00000343849.2:c.114+4706T>C (CAV3) ENSP00000341940.2:n.114+4706T>C
ENST00000397368.2:c.114+4706T>C (CAV3) ENSP00000380525.2:n.114+4706T>C
ENST00000435138.5:c.64+3763A>G (SSUH2) ENSP00000412333.1:n.64+3763A>G
ENST00000472766.1:n.155+4706T>C (CAV3)
ENST00000478513.1:n.335+3763A>G (SSUH2)
NM_001234.4:c.114+4706T>C (CAV3) NP_001225.1:n.114+4706T>C
NM_033337.2:c.114+4706T>C , LRG_329t1:c.114+4706T>C (CAV3) NP_203123.1:n.114+4706T>C
XR_940435.1:n.330+3763A>G (SSUH2)
XM_017006530.1:c.-283+3763A>G (SSUH2) XP_016862019.1:n.-283+3763A>G
NM_001234.5:c.114+4706T>C (CAV3) NP_001225.1:n.114+4706T>C
NM_033337.3:c.114+4706T>C (CAV3) MANE Select NP_203123.1:n.114+4706T>C