Canonical Allele Identifier: CA215224

Linked Data

ClinVar Variation Id: 8295
dbSNP Id: rs121909281

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733916G>C , CM000665.2:g.8733916G>C GRCh38
NC_000003.11:g.8775602G>C , CM000665.1:g.8775602G>C GRCh37
NC_000003.10:g.8750602G>C NCBI36
NG_008797.2:g.5107G>C , LRG_329:g.5107G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.40G>C (CAV3) MANE Select ENSP00000341940.2:p.Val14Leu
ENST00000343849.2:c.40G>C (CAV3) ENSP00000341940.2:p.Val14Leu
ENST00000397368.2:c.40G>C (CAV3) ENSP00000380525.2:p.Val14Leu
ENST00000435138.5:c.64+8543C>G (SSUH2) ENSP00000412333.1:n.64+8543C>G
ENST00000472766.1:n.81G>C (CAV3)
ENST00000478513.1:n.335+8543C>G (SSUH2)
NM_001234.4:c.40G>C (CAV3) NP_001225.1:p.Val14Leu
NM_033337.2:c.40G>C , LRG_329t1:c.40G>C (CAV3) NP_203123.1:p.Val14Leu
XR_940435.1:n.330+8543C>G (SSUH2)
XM_017006530.1:c.-283+8543C>G (SSUH2) XP_016862019.1:n.-283+8543C>G
NM_001234.5:c.40G>C (CAV3) NP_001225.1:p.Val14Leu
NM_033337.3:c.40G>C (CAV3) MANE Select NP_203123.1:p.Val14Leu