Canonical Allele Identifier: CA69861818

Linked Data

ClinVar Variation Id: 1292447
ClinVar RCV Id: RCV001714455
dbSNP Id: rs917823409
gnomAD v4: 3-8733846-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733846A>G , CM000665.2:g.8733846A>G GRCh38
NC_000003.11:g.8775532A>G , CM000665.1:g.8775532A>G GRCh37
NC_000003.10:g.8750532A>G NCBI36
NG_008797.2:g.5037A>G , LRG_329:g.5037A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.-31A>G (CAV3) MANE Select ENSP00000341940.2:n.-31A>G
ENST00000343849.2:c.-31A>G (CAV3) ENSP00000341940.2:n.-31A>G
ENST00000435138.5:c.64+8613T>C (SSUH2) ENSP00000412333.1:n.64+8613T>C
ENST00000472766.1:n.11A>G (CAV3)
ENST00000478513.1:n.335+8613T>C (SSUH2)
NM_001234.4:c.-31A>G (CAV3) NP_001225.1:n.-31A>G
NM_033337.2:c.-31A>G , LRG_329t1:c.-31A>G (CAV3) NP_203123.1:n.-31A>G
XR_940435.1:n.330+8613T>C (SSUH2)
XM_017006530.1:c.-283+8613T>C (SSUH2) XP_016862019.1:n.-283+8613T>C
NM_001234.5:c.-31A>G (CAV3) NP_001225.1:n.-31A>G
NM_033337.3:c.-31A>G (CAV3) MANE Select NP_203123.1:n.-31A>G