Canonical Allele Identifier: CA1344402382

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8738804C= , CM000665.2:g.8738804C= GRCh38
NC_000003.11:g.8780490C= , CM000665.1:g.8780490C= GRCh37
NC_000003.10:g.8755490C= NCBI36
NG_008797.2:g.9995C= , LRG_329:g.9995C=

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.114+4814C= (CAV3) MANE Select ENSP00000341940.2:n.114+4814C=
ENST00000343849.2:c.114+4814C= (CAV3) ENSP00000341940.2:n.114+4814C=
ENST00000397368.2:c.114+4814C= (CAV3) ENSP00000380525.2:n.114+4814C=
ENST00000435138.5:c.64+3655G= (SSUH2) ENSP00000412333.1:n.64+3655G=
ENST00000472766.1:n.155+4814C= (CAV3)
ENST00000478513.1:n.335+3655G= (SSUH2)
NM_001234.4:c.114+4814C= (CAV3) NP_001225.1:n.114+4814C=
NM_033337.2:c.114+4814C= , LRG_329t1:c.114+4814C= (CAV3) NP_203123.1:n.114+4814C=
XR_940435.1:n.330+3655G= (SSUH2)
XM_017006530.1:c.-283+3655G= (SSUH2) XP_016862019.1:n.-283+3655G=
NM_001234.5:c.114+4814C= (CAV3) NP_001225.1:n.114+4814C=
NM_033337.3:c.114+4814C= (CAV3) MANE Select NP_203123.1:n.114+4814C=