Canonical Allele Identifier: CA215208

Linked Data

ClinVar Variation Id: 31740
ClinVar RCV Id: RCV000024426
dbSNP Id: rs116840787

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733992T>C , CM000665.2:g.8733992T>C GRCh38
NC_000003.11:g.8775678T>C , CM000665.1:g.8775678T>C GRCh37
NC_000003.10:g.8750678T>C NCBI36
NG_008797.2:g.5183T>C , LRG_329:g.5183T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.114+2T>C (CAV3) MANE Select ENSP00000341940.2:p.=
ENST00000343849.2:c.114+2T>C ENSP00000341940.2:p.=
ENST00000397368.2:c.114+2T>C ENSP00000380525.2:p.=
ENST00000435138.5:c.64+8467A>G ENSP00000412333.1:p.=
ENST00000472766.1:n.155+2T>C
ENST00000478513.1:n.335+8467A>G
NM_001234.4:c.114+2T>C (CAV3) NP_001225.1:p.=
NM_033337.2:c.114+2T>C , LRG_329t1:c.114+2T>C (CAV3) NP_203123.1:p.=
XR_940435.1:n.330+8467A>G (SSUH2)
XM_017006530.1:c.-283+8467A>G (SSUH2) XP_016862019.1:p.=
NM_001234.5:c.114+2T>C (CAV3) NP_001225.1:p.=
NM_033337.3:c.114+2T>C (CAV3) MANE Select NP_203123.1:p.=