Canonical Allele Identifier: CA2236284

Linked Data

dbSNP Id: rs750257861
gnomAD v2: 3-8775668-A-G
gnomAD v4: 3-8733982-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733982A>G , CM000665.2:g.8733982A>G GRCh38
NC_000003.11:g.8775668A>G , CM000665.1:g.8775668A>G GRCh37
NC_000003.10:g.8750668A>G NCBI36
NG_008797.2:g.5173A>G , LRG_329:g.5173A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.106A>G (CAV3) MANE Select ENSP00000341940.2:p.Ile36Val
ENST00000343849.2:c.106A>G (CAV3) ENSP00000341940.2:p.Ile36Val
ENST00000397368.2:c.106A>G (CAV3) ENSP00000380525.2:p.Ile36Val
ENST00000435138.5:c.64+8477T>C (SSUH2) ENSP00000412333.1:n.64+8477T>C
ENST00000472766.1:n.147A>G (CAV3)
ENST00000478513.1:n.335+8477T>C (SSUH2)
NM_001234.4:c.106A>G (CAV3) NP_001225.1:p.Ile36Val
NM_033337.2:c.106A>G , LRG_329t1:c.106A>G (CAV3) NP_203123.1:p.Ile36Val
XR_940435.1:n.330+8477T>C (SSUH2)
XM_017006530.1:c.-283+8477T>C (SSUH2) XP_016862019.1:n.-283+8477T>C
NM_001234.5:c.106A>G (CAV3) NP_001225.1:p.Ile36Val
NM_033337.3:c.106A>G (CAV3) MANE Select NP_203123.1:p.Ile36Val